The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
An individual having different alleles at one or more loci regarding a specific character.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Actual loss of portion of a chromosome.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
DNA present in neoplastic tissue.
Any method used for determining the location of and relative distances between genes on a chromosome.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Genotypic differences observed among individuals in a population.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Identification of genetic carriers for a given trait.
An individual in which both alleles at a given locus are identical.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
The mating of plants or non-human animals which are closely related genetically.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Biochemical identification of mutational changes in a nucleotide sequence.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Tumor suppressor genes located in the 18q21-qter region of human chromosome 18. The absence of these genes is associated with the formation of colorectal cancer (DCC stands for deleted in colorectal cancer). The products of these genes show significant homology to neural cell adhesion molecules and other related cell surface glycoproteins.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
The adaptive superiority of the heterozygous GENOTYPE with respect to one or more characters in comparison with the corresponding HOMOZYGOTE.
Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with the formation of colorectal cancer (MCC stands for mutated in colorectal cancer).
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A group of enzymes that catalyze the hydrolysis of diphosphate bonds in compounds such as nucleoside di- and tri-phosphates, and sulfonyl-containing anhydrides such as adenylylsulfate. (Enzyme Nomenclature, 1992) EC 3.6.
The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy).
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Tumor suppressor genes located on human chromosome 13 in the region 13q14 and coding for a family of phosphoproteins with molecular weights ranging from 104 kDa to 115 kDa. One copy of the wild-type Rb gene is necessary for normal retinal development. Loss or inactivation of both alleles at this locus results in retinoblastoma.
A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified.
An animal or plant species in danger of extinction. Causes can include human activity, changing climate, or change in predator/prey ratios.
A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
Deletion of sequences of nucleic acids from the genetic material of an individual.
Tumor suppressor genes located on the long arm of human chromosome 17 in the region 17q11.2. Mutation of these genes is thought to cause NEUROFIBROMATOSIS 1, Watson syndrome, and LEOPARD syndrome.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
A malignant epithelial tumor with a glandular organization.
Tumors or cancer of the human BREAST.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.
A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
Tumor suppressor genes located on human chromosome 9 in the region 9p21. This gene is either deleted or mutated in a wide range of malignancies. (From Segen, Current Med Talk, 1995) Two alternatively spliced gene products are encoded by p16: CYCLIN-DEPENDENT KINASE INHIBITOR P16 and TUMOR SUPPRESSOR PROTEIN P14ARF.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.
The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
The performance of dissections with the aid of a microscope.
Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.
Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.
The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR.
Tumors or cancers of the KIDNEY.
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
A product of the p16 tumor suppressor gene (GENES, P16). It is also called INK4 or INK4A because it is the prototype member of the INK4 CYCLIN-DEPENDENT KINASE INHIBITORS. This protein is produced from the alpha mRNA transcript of the p16 gene. The other gene product, produced from the alternatively spliced beta transcript, is TUMOR SUPPRESSOR PROTEIN P14ARF. Both p16 gene products have tumor suppressor functions.
A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
An enzyme catalyzing the formation of AMP from adenine and phosphoribosylpyrophosphate. It can act as a salvage enzyme for recycling of adenine into nucleic acids. EC 2.4.2.7.
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
A lipid phosphatase that acts on phosphatidylinositol-3,4,5-trisphosphate to regulate various SIGNAL TRANSDUCTION PATHWAYS. It modulates CELL GROWTH PROCESSES; CELL MIGRATION; and APOPTOSIS. Mutations in PTEN are associated with COWDEN DISEASE and PROTEUS SYNDROME as well as NEOPLASTIC CELL TRANSFORMATION.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
Mapping of the KARYOTYPE of a cell.
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Deoxyribonucleic acid that makes up the genetic material of plants.
Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)
A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed)
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
An order of nematodes of the subclass SECERNENTEA. Characteristics include an H-shaped excretory system with two subventral glands.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Pathological processes that tend eventually to become malignant. (From Dorland, 27th ed)
Tumors or cancer of the LUNG.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
The reciprocal exchange of segments at corresponding positions along pairs of homologous CHROMOSOMES by symmetrical breakage and crosswise rejoining forming cross-over sites (HOLLIDAY JUNCTIONS) that are resolved during CHROMOSOME SEGREGATION. Crossing-over typically occurs during MEIOSIS but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes.
Tumors or cancer of the ESOPHAGUS.
Genes that influence the PHENOTYPE only in the homozygous state.
Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.
A benign epithelial tumor with a glandular organization.
A subtype of HLA-DRB beta chains that is associated with the HLA-DR51 serological subtype.
Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.
A subtype of HLA-DRB beta chains that includes over 50 allelic variants. The HLA-DRB3 beta-chain subtype is associated with HLA-DR52 serological subtype.
A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2056-7)
Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.
A subtype of HLA-DRB beta chains that is associated with the HLA-DR53 serological subtype.
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.
Family of retrovirus-associated DNA sequences (ras) originally isolated from Harvey (H-ras, Ha-ras, rasH) and Kirsten (K-ras, Ki-ras, rasK) murine sarcoma viruses. Ras genes are widely conserved among animal species and sequences corresponding to both H-ras and K-ras genes have been detected in human, avian, murine, and non-vertebrate genomes. The closely related N-ras gene has been detected in human neuroblastoma and sarcoma cell lines. All genes of the family have a similar exon-intron structure and each encodes a p21 protein.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.
Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.
An invasive (infiltrating) CARCINOMA of the mammary ductal system (MAMMARY GLANDS) in the human BREAST.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
A group of hydrolases which catalyze the hydrolysis of monophosphoric esters with the production of one mole of orthophosphate. EC 3.1.3.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Any of several large carnivorous mammals of the family CANIDAE that usually hunt in packs.
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in the PARATHYROID GLANDS, the PITUITARY GLAND, and the PANCREATIC ISLETS. The resulting clinical signs include HYPERPARATHYROIDISM; HYPERCALCEMIA; HYPERPROLACTINEMIA; CUSHING DISEASE; GASTRINOMA; and ZOLLINGER-ELLISON SYNDROME. This disease is due to loss-of-function of the MEN1 gene, a tumor suppressor gene (GENES, TUMOR SUPPRESSOR) on CHROMOSOME 11 (Locus: 11q13).
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.
Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface.
Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.
Interruption or suppression of the expression of a gene at transcriptional or translational levels.
The fluctuation of the ALLELE FREQUENCY from one generation to the next.
Genes at loci that are involved in the development of WILMS TUMOR. Included are human WT1 at 11p13 and human WT2 (MTACR1) at 11p15.
A species of sheep, Ovis aries, descended from Near Eastern wild forms, especially mouflon.
Tumor suppressor genes located on the long arm of human chromosome 22. Mutation or loss of these genes causes NEUROFIBROMATOSIS 2.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
The most common of the microsatellite tandem repeats (MICROSATELLITE REPEATS) dispersed in the euchromatic arms of chromosomes. They consist of two nucleotides repeated in tandem; guanine and thymine, (GT)n, is the most frequently seen.
The relationships of groups of organisms as reflected by their genetic makeup.
Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.
An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)
An acid-base indicator which is colorless in acid solution, but turns pink to red as the solution becomes alkaline. It is used medicinally as a cathartic.
The total process by which organisms produce offspring. (Stedman, 25th ed)
Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas (ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas (OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle. (From Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21)
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
A class in the phylum MOLLUSCA comprised of mussels; clams; OYSTERS; COCKLES; and SCALLOPS. They are characterized by a bilaterally symmetrical hinged shell and a muscular foot used for burrowing and anchoring.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord.
Tumors or cancer of the SKIN.
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus.
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.
Structures within the nucleus of fungal cells consisting of or containing DNA, which carry genetic information essential to the cell.
Tumors or cancer of the STOMACH.
The degree of replication of the chromosome set in the karyotype.
A lesion with cytological characteristics associated with invasive carcinoma but the tumor cells are confined to the epithelium of origin, without invasion of the basement membrane.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
Number of individuals in a population relative to space.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
The asymmetrical segregation of genes during replication which leads to the production of non-reciprocal recombinant strands and the apparent conversion of one allele into another. Thus, e.g., the meiotic products of an Aa individual may be AAAa or aaaA instead of AAaa, i.e., the A allele has been converted into the a allele or vice versa.
Establishing the father relationship of a man and a child.
Tumors or cancer of the MOUTH.
Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.
The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.
An experimental lymphocytic leukemia of mice.
Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)
The detection of RESTRICTION FRAGMENT LENGTH POLYMORPHISMS by selective PCR amplification of restriction fragments derived from genomic DNA followed by electrophoretic analysis of the amplified restriction fragments.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.
An INK4 cyclin-dependent kinase inhibitor containing four ANKYRIN-LIKE REPEATS. INK4B is often inactivated by deletions, mutations, or hypermethylation in HEMATOLOGIC NEOPLASMS.
MutS homolog 2 protein is found throughout eukaryotes and is a homolog of the MUTS DNA MISMATCH-BINDING PROTEIN. It plays an essential role in meiotic RECOMBINATION and DNA REPAIR of mismatched NUCLEOTIDES.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.

Superimposed histologic and genetic mapping of chromosome 9 in progression of human urinary bladder neoplasia: implications for a genetic model of multistep urothelial carcinogenesis and early detection of urinary bladder cancer. (1/2687)

The evolution of alterations on chromosome 9, including the putative tumor suppressor genes mapped to the 9p21-22 region (the MTS genes), was studied in relation to the progression of human urinary bladder neoplasia by using whole organ superimposed histologic and genetic mapping in cystectomy specimens and was verified in urinary bladder tumors of various pathogenetic subsets with longterm follow-up. The applicability of chromosome 9 allelic losses as non-invasive markers of urothelial neoplasia was tested on voided urine and/or bladder washings of patients with urinary bladder cancer. Although sequential multiple hits in the MTS locus were documented in the development of intraurothelial precursor lesions, the MTS genes do not seem to represent a major target for p21-23 deletions in bladder cancer. Two additional tumor suppressor genes involved in bladder neoplasia located distally and proximally to the MTS locus within p22-23 and p11-13 regions respectively were identified. Several distinct putative tumor suppressor gene loci within the q12-13, q21-22, and q34 regions were identified on the q arm. In particular, the pericentromeric q12-13 area may contain the critical tumor suppressor gene or genes for the development of early urothelial neoplasia. Allelic losses of chromosome 9 were associated with expansion of the abnormal urothelial clone which frequently involved large areas of urinary bladder mucosa. These losses could be found in a high proportion of urothelial tumors and in voided urine or bladder washing samples of nearly all patients with urinary bladder carcinoma.  (+info)

Level of retinoblastoma protein expression correlates with p16 (MTS-1/INK4A/CDKN2) status in bladder cancer. (2/2687)

Recent studies have shown that patients whose bladder cancer exhibit overexpression of RB protein as measured by immunohistochemical analysis do equally poorly as those with loss of RB function. We hypothesized that loss of p16 protein function could be related to RB overexpression, since p16 can induce transcriptional downregulation of RB and its loss may lead to aberrant RB regulation. Conversely, loss of RB function has been associated with high p16 protein expression in several other tumor types. In the present study RB negative bladder tumors also exhibited strong nuclear p16 staining while each tumor with strong, homogeneous RB nuclear staining were p16 negative, supporting our hypothesis. To expand on these immunohistochemical studies additional cases were selected in which the status of the p16 encoding gene had been determined at the molecular level. Absent p16 and high RB protein expression was found in the tumors having loss of heterozygosity within 9p21 and a structural change (mutation or deletion) of the remaining p16 encoding gene allele, confirming the staining results. These results strongly support the hypothesis that the RB nuclear overexpression recently associated with poor prognosis in bladder cancer is also associated with loss of p16 function and implies that loss of p16 function could be equally deleterious as RB loss in bladder and likely other cancers.  (+info)

Multiple target sites of allelic imbalance on chromosome 17 in Barrett's oesophageal cancer. (3/2687)

Twelve Barrett's adenocarcinomas have been analysed for the occurrence of allelic imbalance (LOH) on chromosome 17 using 41 microsatellite markers. This study provides evidence for 13 minimal regions of LOH, six on 17p and seven on 17q. Four of these centre in the vicinity of the known tumour suppressor genes (TSGs) TP53 (17p13.1), NFI (17q11.2), BRCA1 (17q21.1), and a putative TSG (17p13.3). The tumours all displayed relatively small regions of LOH (1-10 cM), and in several tumours extensive regions of LOH were detected. One tumour displayed only two very small regions of LOH; 17p11.2 and 17p13.1. The frequency of allelic imbalance has been calculated based on the LOH encompassing only one minimal region, and based on all the LOH observations. By both evaluations the highest LOH frequencies were found for regions II (p53), III (17p13.1 centromeric to p53), IV (17p12), V (17p11.2) and VII (NF1, 17q11.2). Our data supports the existence of multiple TSGs on chromosome 17 and challenges the view that p53 is the sole target of LOH on 17p in Barrett's adenocarcinoma.  (+info)

p73 at chromosome 1p36.3 is lost in advanced stage neuroblastoma but its mutation is infrequent. (4/2687)

p73, a novel p53 family member, is a recently identified candidate neuroblastoma (NBL) suppressor gene mapped at chromosome 1p36.33 and was found to inhibit growth and induce apoptosis in cell lines. To test the hypothesis that p73 is a NBL suppressor gene, we analysed the p73 gene in primary human NBLs. Loss of heterozygosity (LOH) for p73 was observed in 19% (28/151) of informative cases which included 92 mass-screening (MS) tumors. The high frequency of p73 LOH was significantly associated with sporadic NBLs (9% vs 34%, P<0.001), N-myc amplification (10% vs 71%, P<0.001), and advanced stage (14% vs 28%, P<0.05). Both p73alpha and p73beta transcripts were detectable in only 46 of 134 (34%) NBLs at low levels by RT-PCR methods, while they were easily detectable in most breast cancers and colorectal cancers under the same conditions. They found no correlation between p73 LOH and its expression levels (P>0.1). We found two mutations out of 140 NBLs, one somatic and one germline, which result in amino acid substitutions in the C-terminal region of p73 which may affect transactivation functions, though, in the same tumor samples, no mutation of the p53 gene was observed as reported previously. These results suggest that allelic loss of the p73 gene may be a later event in NBL tumorigenesis. However, p73 is infrequently mutated in primary NBLs and may hardly function as a tumor suppressor in a classic Knudson's manner.  (+info)

Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas. (5/2687)

Expression of CDX2, a caudal-related homeobox gene, was found to be decreased in colorectal carcinomas. Heterozygous null mutant mice as to Cdx2 develop multiple intestinal adenomatous polyps. To clarify the role of CDX2 in colorectal carcinogenesis, we determined its genomic structure, and searched for mutations of CDX2 in 49 sporadic colorectal carcinomas and ten hereditary non-polyposis colorectal cancers (HNPCC) without microsatellite instability. None of them exhibited a mutation. We further examined 19 HNPCC carcinomas with microsatellite instability for mutations in a (G)7 repeat site within CDX2. One of them (5.3%) exhibited one G insertion. Loss of heterozygosity was observed in 2 of the 20 (10%) informative sporadic carcinomas, and in one of the three (33.3%) informative HNPCC cancers. These data indicate that CDX2 may play only a minor role in colorectal carcinogenesis.  (+info)

Analysis of TSG101 tumour susceptibility gene transcripts in cervical and endometrial cancers. (6/2687)

Carcinoma of the uterine cervix is a common malignancy among women that has been found to show loss of heterozygosity in the chromosome 11p. Recent studies have localized the TSG101 gene in this region, and also demonstrated a high frequency of abnormalities of this gene in human breast cancer. To determine the role of the TSG101 gene in the carcinogenesis of cervical and uterine carcinoma, 19 cases of cervical carcinoma and five cases of endometrial carcinoma, as well as nearby non-cancerous tissue from the same patients, and 16 blood samples from healthy persons as normal control were analysed by Southern blot analysis of genomic DNA, reverse transcription of the TSG101 mRNA followed by PCR amplification and sequencing of the products. We found that abnormal transcripts of the TSG101 gene were common both in cancerous or non-cancerous tissues of the uterus and cervix and in normal peripheral mononuclear cells. There was no genomic deletion or rearrangement in spite of the presence of abnormal transcripts, and no definite relationship between the abnormal transcripts and HPV infection was found. Although the frequency of abnormal transcripts was higher in cancerous than in non-cancerous tissue, normal peripheral mononuclear cells also had abnormal transcripts. Given these findings, the role of the TSG101 gene as a tumour-suppressor gene should be re-evaluated. Because some aberrant transcripts could be found at the first PCR reaction, we suggest that the aberrant transcripts might be the result of imperfect minor splicesome products.  (+info)

Loss of heterozygosity (LOH), malignancy grade and clonality in microdissected prostate cancer. (7/2687)

The aim of the present study was to find out whether increasing malignancy of prostate carcinoma correlates with an overall increase of loss of heterozygosity (LOH), and whether LOH typing of microdissected tumour areas can help to distinguish between multifocal or clonal tumour development. In 47 carcinomas analysed at 25 chromosomal loci, the overall LOH rate was found to be significantly lower in grade 1 areas (2.2%) compared with grade 2 (9.4%) and grade 3 areas (8.3%, P = 0.007). A similar tendency was found for the mean fractional allele loss (FAL, 0.043 for grade 1, 0.2 for grade 2 and 0.23 for grade 3, P = 0.0004). Of 20 tumours (65%) with LOH in several microdissected areas, 13 had identical losses at 1-4 loci within two or three areas, suggesting clonal development of these areas. Markers near RB, DCC, BBC1, TP53 and at D13S325 (13q21-22) showed higher loss rates in grades 2 and 3 (between 25% and 44.4%) compared with grade 1 (0-6.6%). Tumour-suppressor genes (TSGs) near these loci might, thus, be important for tumour progression. TP53 mutations were detected in 27%, but BBC1 mutations in only 7%, of samples with LOH. Evaluation of all 25 loci in every tumour made evident that each prostate cancer has its own pattern of allelic losses.  (+info)

Mutations and allelic deletions of the MEN1 gene are associated with a subset of sporadic endocrine pancreatic and neuroendocrine tumors and not restricted to foregut neoplasms. (8/2687)

Endocrine pancreatic tumors (EPT) and neuroendocrine tumors (NET) occur sporadically and rarely in association with multiple endocrine neoplasia type 1 (MEN1). We analyzed the frequency of allelic deletions and mutations of the recently identified MEN1 gene in 53 sporadic tumors including 30 EPT and 23 NET (carcinoids) of different locations and types. Allelic deletion of the MEN1 locus was identified in 18/49 (36.7%) tumors (13/30, 43.3% in EPT and 5/19, 26.3% in NET) and mutations of the MEN1 gene were present in 8/52 (15.3%) tumors (4/30 (13.3%) EPT and 4/22 (18.1%) NET). The somatic mutations were clustered in the 5' region of the coding sequence and most frequently encompassed missense mutations. All tumors with mutations exhibited a loss of the other allele and a wild-type sequence of the MEN1 gene in nontumorous DNA. In one additional patient with a NET of the lung and no clinical signs or history of MEN1, a 5178-9G-->A splice donor site mutation in intron 4 was identified in both the tumor and blood DNA, indicating the presence of a thus far unknown MEN1 syndrome. In most tumor groups the frequency of allelic deletions at 11q13 was 2 to 3 times higher than the frequency of identified MEN1 gene mutations. Some tumor types, including rare forms of EPT and NET of the duodenum and small intestine, exhibited mutations more frequently than other types. Furthermore, somatic mutations were not restricted to foregut tumors but were also detectable in a midgut tumor (15.2% versus 16.6%). Our data indicate that somatic MEN1 gene mutations contribute to a subset of sporadic EPT and NET, including midgut tumors. Because the frequency of mutations varies significantly among the investigated tumor subgroups and allelic deletions are 2 to 3 times more frequently observed, factors other than MEN1 gene inactivation, including other tumor-suppressor genes on 11q13, may also be involved in the tumorigenesis of these neoplasms.  (+info)

Surveying the literature, the frequency distribution of single-locus heterozygosity among protein loci was examined in 95 vertebrate and 34 invertebrate species with the aim of testing the validity of the mutation-drift hypothesis. This distribution did not differ significantly from that expected under the mutation-drift hypothesis for any of the species examined when tested by the Kolmogorov-Smirnov goodness-of-fit statistic. The agreement between the observed interlocus variance of heterozygosity and its theoretical expectation was also satisfactory. There was an indication that variation in the mutation rate among loci inflates the interlocus variance of heterozygosity. The variance of heterozygosity for a homologous locus among different species was also studied. This variance generally agreed with the theoretical value very well, though in some groups of Drosophila species there was a significant discrepancy. The observed relationship between average heterozygosity and the proportion of ...
In the current study we investigated the LOH incidence at 8 microsatellite markers mapping to known tumor suppressor genes in the plasma of breast cancer patients. For our retrospective study, we chose a patient cohort that was randomly selected from the SUCCESS study (19). Therefore, we cannot exclude that this patient selection may have introduced a bias, which is a common limitation for all translational cohort studies frequently conducted as part of larger clinical trials. Our findings showed numerous significant correlations between clinicopathologic risk factors of the patients and the LOH-positive markers D3S1605, D10S1765, D12S1725, D13S218, and D17S855. The high LOH frequencies detected at these markers were associated with more aggressive carcinomas, and in particular, LOH at D12S1725 mapping to the cyclin D2 gene was associated with reduced survival of the breast cancer patients.. Furthermore, our extended DNA extraction of the flow-through derived from QIAamp mini columns showed ...
Suppose the cee location is under selection for heterozygosity. What this means is that animals that have both the C and c alleles will leave more progeny in the next generation than animals that are CC or cc (i.e. homozygous). In the absence of crossing over, however - and remember, crossing over in any given location is an infrequent event - selection for a Cc animal will at the same time select for animals that are heterozygous at the other three nearby locations. In this way, these other locations are also selected for heterozygosity, even though the real selection is acting only at the cee location. The other locations are merely hitchhiking because they are physically connected to the alleles under selection. In a small population over a short timeframe (tens of generations) this effect can be quite pronounced. All it takes is a few locations in the genome to be under selection for heterozygosity, and large swaths of the genome will hitchhike along. This means that a large ...
Cancer diagnosis and treatment decisions have historically been based on anatomic sites of origin and spread; however, the emerging paradigm incorporates key genetic attributes of a given tumor to predict clinical behavior and specify the optimal use of targeted therapeutics. Ultimately, the delivery of personalized cancer medicine will require systematic characterization of all therapeutically informative tumor genomic alterations in the clinical and translational arena. Previously, we developed and deployed OncoMap, a mass spectrometric genotyping-based platform that enables high-throughput profiling of hundreds of known mutations across dozens of cancer genes. This platform performs well and has launched a robust translational oncology effort. However, the mass spectrometric genotyping technology remains limited in scope, assay sensitivity, and the type of genomic alteration that can be identified. Recently, it has become possible to render multi-faceted tumor characterization both ...
Background Great frequency of lack of heterozygosity (LOH) was bought at D7S486 in principal gastric cancers (GC). proliferation of GC cell lines. Methylation and Mutation evaluation Vorinostat were performed to explore possible systems of TES inactivation in GC. Results LOH evaluation discovered five applicant genes (ST7 FOXP2 MDFIC TES and CAV1) whose frequencies of LOH had been greater than 30%. Nevertheless just TES demonstrated the potential to be always a TSG connected with GC. Among 140 pairs of GC examples reduced TES mRNA level was within 96 (68.6%) tumor tissue in comparison to matched non-tumor tissue (p < 0.001). Also decreased TES proteins level was discovered in 36 (72.0%) of most 50 tumor tissue by Western blot (p = 0.001). Furthermore immunohistochemical staining result is at contract with this of American and RT-PCR blot. Down legislation of TES was been Dll4 shown to be correlated with tumor differentiation Vorinostat (p = 0.035) and prognosis (p = 0.035 log-rank test). Its ...
Once melanoma has metastasized, overall prognosis is generally poor. Methods to more accurately assess this risk include histopathological evaluation of the primary tumor and draining lymph nodes along with serial radiographic imaging studies to survey for distant metastasis. Although these techniques have permitted a more accurate appraisal of tumor biology by precisely staging patients, it is not uncommon for the same-stage patients to have differing disease courses. Improved methods are needed to identify those same stage patients who may benefit from a more aggressive treatment approach. Assessment of tumor DNA may provide more accurate insight into tumor progression and, thus, allow for the identification of molecular surrogates that precede and predict clinical events (26) .. We and others have shown that as melanomas progress they acquire additional LOH events, which may be associated with a metastatic or more aggressive phenotype (5 , 6 , 10 , 13 , 14 , 24) . Therefore, identifying those ...
Homo sapiens loss of heterozygosity, 11, chromosomal region 2, gene A (LOH11CR2A), transcript variant 2, mRNA. (H00004013-R02) - Products - Abnova
Farmaceutisch Analytisch Laboratorium Duiven B.V. (FAL Duiven) was founded in 1982, as a privately owned company and moved to the present purpose built premises in 1997.
Background Genomic deletion at tumor suppressor loci is a common genetic aberration in human cancers. The study aimed to explore candidate tumor suppressor genes at chromosome 4q25-q28.2 and to delineate novel prognostic biomarkers associated with colorectal cancer (CRC). Methods Deletion mapping of chromosome 4q25-q28.2 was conducted in 114 sporadic CRC by loss of heterozygosity study with 11 microsatellite markers. A novel candidate tumor suppressor gene, namely NDST4, was identified at 4q26. Gene expression of NDST4 was investigated in 52 pairs of primary CRC tissues by quantitative reverse transcription-polymerase chain reaction. Allelic loss of NDST4 gene was further determined in 174 colorectal carcinomas by loss of heterozygosity analysis, and then was assessed for clinical relevance. Results One minimal deletion region was delineated between D4S2297 and D4S2303 loci at 4q26, where NDST4 was the only gene that had markedly been downregulated in CRC tumors. By laser capture microdissection,
Cohesin is a multi-subunit protein complex essential for sister chromatid cohesion, gene expression and DNA damage repair. Although structurally well studied, the underlying determinant of cohesion establishment on chromosomal arms remains enigmatic. Here, we show two populations of functionally distinct cohesin on chromosomal arms using a combination of genomics and single-locus specific DNA-FISH analysis. Chromatin bound cohesin at the loading sites co-localizes with Pds5 and Eso1 resulting in stable cohesion. In contrast, cohesin independent of its loader is unable to maintain cohesion and associates with chromatin in a dynamic manner. Cohesive sites coincide with highly expressed genes and transcription inhibition leads to destabilization of cohesin on chromatin. Furthermore, induction of transcription results in de novo recruitment of cohesive cohesin. Our data suggest that transcription facilitates cohesin loading onto chromosomal arms and is a key determinant of cohesive sites in fission yeast.
About 90 percent of human pancreatic carcinomas show allelic loss at chromosome 18q. To identify candidate tumor suppressor genes on 18q, a panel of pancreatic carcinomas were analyzed for convergent sites of homozygous deletion. Twenty-five of 84 tumors had homozygous deletions at 18q21.1, a site that excludes DCC (a candidate suppressor gene for colorectal cancer) and includes DPC4, a gene similar in sequence to a Drosophila melanogaster gene (Mad) implicated in a transforming growth factor-β (TGF-β)-like signaling pathway. Potentially inactivating mutations in DPC4 were identified in six of 27 pancreatic carcinomas that did not have homozygous deletions at 18q21.1. These results identify DPC4 as a candidate tumor suppressor gene whose inactivation may play a role in pancreatic and possibly other human cancers.. ...
In natural populations, mating between relatives can have important fitness consequences due to the negative effects of reduced heterozygosity. Parental level of inbreeding or heterozygosity has been also found to influence the performance of offspring, via direct and indirect parental effects that are independent of the progeny own level of genetic diversity. In this study, we first analysed the effects of parental heterozygosity and relatedness (i.e. an estimate of offspring genetic diversity) on four traits related to offspring viability in great tits (Parus major) using 15 microsatellite markers. Second, we tested whether significant heterozygosity-fitness correlations (HFCs) were due to local (i.e. linkage to genes influencing fitness) and/or general (genome-wide heterozygosity) effects. We found a significant negative relationship between parental genetic relatedness and hatching success, and maternal heterozygosity was positively associated with offspring body size. The ...
Our results demonstrate that extensive inbreeding leads to depressed sperm quality. However, while the negative relationship between species heterozygosity and sperm quality was evident when all species were examined, it is clear that this pattern was generated by the endangered species in the dataset. When we confined our analysis to endangered species, criteria that arguably most closely meet the conditions where heterozygosity reflects inbreeding (e.g. Slate et al. 2004; Aparicio et al. 2007; Grueber et al. 2008), more homozygous species had reduced sperm quality. There was no association between sperm quality and heterozygosity in non-endangered species. Thus, our results support the previously reported link between heterozygosity and sperm quality in European rabbits (Oryctolagus cuniculus; Gage et al. 2006) while bolstering the argument that estimates of heterozygosity may not accurately reflect the level of inbreeding unless certain restrictive conditions are met (Balloux et al. 2004; ...
A total of 83 prostate adenocarcinomas was evaluated for allelic loss on chromosome 10 by analysis of loss of polymorphic microsatellite repeats. Initially, 64 stage B carcinomas were analyzed at 12 loci on chromosome 10. Nine cases showed loss of chromosome 10 sequences, with a fractional allelic loss of 20%. These nine cases were then analyzed at an additional 19 loci to define better the regions of loss. Four areas of loss were identified, including 10p (2 of 64 cases), 10q23.1 (7 of 64 cases), 10q23.3 (4 of 64 cases), and 10q26 (2 of 64 cases). Three loci in these regions, D10S111, D10S185, and D10S192, were then analyzed in 19 advanced (stage C and D) carcinomas. Seven (37%) of 19 advanced carcinomas showed allelic loss at one or more of these loci. A statistically significant increase in the fractional allelic loss at both D10S111 (10p) and D10S185 (10q23.1) was observed. Thus, a complex pattern of loss is seen on chromosome 10 in prostate carcinoma, with regions of loss on 10p and 10q, ...
Intimacy counselling. Find out more about our free, confidential counselling with medical specialists trained in intimacy, body image, sexual confidence and relationships. Available to all those facing cancer and their partners, including members of the LGBTQI community. ...
PubMed comprises more than 30 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
Chromosome arm 16q is a common site of loss of heterozygosity (LOH) in Wilms tumors (WTs). The mechanism and consequences of 16q LOH are not known, but the CTCF gene, in band 16q22, is a candidate target gene. CTCF protein binds to DNA upstream of the H19 gene on chromosome band 11p15, and maintains …
LOH and microsatellite alterations were observed in biopsy specimens from both current and former smokers, but no statistically significant differences were observed between the two groups. Among individuals with a history of smoking, 86% demonstrated LOH in one or more biopsy specimens, and 24% showed LOH in all biopsy specimens. About half of the histologically normal specimens from smokers showed LOH, but the frequency of LOH and the severity of histologic change did not correspond until the carcinoma in situ stage. A subset of biopsy specimens from smokers that exhibited either normal or preneoplastic histology showed LOH at multiple chromosomal sites, a phenomenon frequently observed in carcinoma in situ and invasive cancer. LOH on chromosomes 3p and 9p was more frequent than LOH on chromosomes 5q, 17p (17p13; TP53 gene), and 13q (13q14; retinoblastoma gene). Microsatellite alterations were detected in 64% of the smokers. No genetic alterations were detected in nonsmokers. Conclusions: ...
Methode. Die Untersuchung des 1p/19q-Status wird mittels Mikrosatelliten-PCR-basiertem Nachweis von Allelverlusten (loss of heterozygosity, LOH) durchgeführt und gehört im ZNP seit 2006 neben den klassischen histologischen und immunhistochemischen Methoden zur Routinediagnostik bei Gliomen.. Material. Für die Bestimmung des 1p/19q-Status ist die Einsendung von in Formalin fixierten und in Paraffin-eingebetteten (FFPE) oder kryo-asservierten repräsentativen Tumorgewebeanteilen sowie parallel einer Blutprobe (EDTA- oder Citrat-Blut) der Patienten als Referenz erforderlich.. Abbildung: Mikrosatelliten-PCR Nachweis von Allelverlusten (loss of heterozygosity, LOH). Marker D1S548, D1S1184, D19S601, D19S559 und D19S433 auf Spreadex® EL 600 Gelen (links) und Marker D1S1608, D1S1592, D1S1161, D19S718 und D19S431 auf Spreadex® EL 800 Gelen (rechts), SYBR® Gold-Färbung; 100 bp Leiter. Für jeden Marker wurden die PCRs aus peripheren Blutleukozyten links, vom Tumorgewebe rechts aufgetragen. Obere ...
This Institutional Repository has been created to collect, preserve and distribute the scholarly output of NEHU.This will work as an important tool to facilitate scholarly communication and preserve the institution knowledge.. ...
Our main purpose was to identify tumor suppressor gene loci on chromosome 13 responsible for nasopharyngeal cancer (NPC) development by analyzing loss of heterozygosity (LOH) and RB protein expression in paraffin embedded tissues. Normal and tumor DNA were extracted from microdissected samples, and …
Ileal neuroendocrine tumors (NETs) represent the most common neoplasm of the small intestine. Although up to 50% of patients with ileal NETs are diagnosed with multifocal disease, the mechanisms by which multifocal ileal NETs arise are not yet understood. In this study, we analyzed genome-wide sequencing data to examine patterns of copy number variation in 40 synchronous primary ileal NETs derived from three patients. Chromosome (chr) 18 loss of heterozygosity (LOH) was the most frequent copy number alteration identified; however, not all primary tumors from the same patient had evidence of this LOH. Our data revealed three distinct patterns of chr18 allelic loss, indicating that primary tumors from the same patient can present different LOH patterns including retention of either parental allele. In conclusion, our results are consistent with the model that multifocal ileal NETs originate independently. In addition, they suggest that there is no specific germline allele on chr18 that is the ...
Hepatocellular carcinoma (HCC) is a multi-factor, multi-step, multi-gene and complicated process resulting from the accumulation of sequential genetic and epigenetic alterations. An important change among them is from precancerous lesions to HCC. However, only few studies have been reported about the sequential genetic changes during hepatocarcinogenesis. We observed firstly molecular karyotypes of 10 matched HCC using Affymetrix single-nucleotide polymorphism (SNP) 6.0 arrays, and found chromosomal fragments with high incidence (more than 70 %) of loss of heterozygosity (LOH). Then, we selected 28 microsatellite markers at some gene spanning these chromosomal fragments, and examined the frequency of LOH of 128 matched HCC and 43 matched precancerous lesions-dysplastic nodules (DN) by a PCR-based analysis. Finally, we investigated the expression of proteins encoded by these genes in HCC, DN and the surrounding hepatic tissues. The result of Affymetrix SNP6.0 arrays demonstrated that more than 70 % (7/10
Deleted in malignant brain tumours 1 (DMBT1), a candidate tumour suppressor gene located on chromosome 10q25.3-q26.1, has recently been identified and found to be deleted in several different types of human tumours. In melanomas, the chromosomal regi
AbstractMismatch repair (MMR) is critical for preserving genomic integrity. Failure of this system can accelerate somatic mutation and increase the risk of developing cancer. MSH6, in complex with MSH2, is the MMR protein that mediates DNA repair through the recognition of 1- and 2-bp mismatches. To evaluate the effects of MSH6 deficiency on genomic stability we compared the frequency of in vivo loss of heterozygosity (LOH) between MSH6-proficient and deficient, 129S2 x C57BL/6 F1 hybrid mice that were heterozygous for our reporter gene Aprt. We recovered mutant cells that had functionally lost APRT protein activity and categorized the spectrum of mutations responsible for the LOH events. We also measured the mutant frequency at the X-linked gene, Hprt, as a second reporter for point mutation. In Msh6-/-Aprt+/- mice, mutation frequency at Aprt was elevated in both T cells and fibroblasts by 2.5-fold and 5.7-fold, respectively, over Msh6+/+Aprt+/- littermate controls. While a modest increase in ...
Genetic diversity is known to confer survival advantage in many species across the tree of life. Here, we hypothesize that such pattern applies to humans as well and could be a result of higher fitness in individuals with higher genomic heterozygosity. We use healthy aging as a proxy for better health and fitness, and observe greater heterozygosity in healthy-aged individuals. Specifically, we find that only common genetic variants show significantly higher excess of heterozygosity in the healthy-aged cohort. Lack of difference in heterozygosity for low-frequency variants or disease-associated variants excludes the possibility of compensation for deleterious recessive alleles as a mechanism. In addition, coding SNPs with the highest excess of heterozygosity in the healthy-aged cohort are enriched in genes involved in extracellular matrix and glycoproteins, a group of genes known to be under long-term balancing selection. We also find that individual heterozygosity rate is a significant predictor of
Most studies that used clonal markers to investigate the relationship between MPTs or to investigate dysplastic lesions occurring in the UADT and that were remote from each other showed polyclonality between these lesions (14 , 79 , 80 , 86 , 88 , 89) . Only a limited amount of MPTs showed the same genetic alterations as evidenced by showing identical microsatellite alterations, LOH patterns, or cytogenetic features (14 , 78 , 79 , 90) . However, the overwhelming majority of remote MPTs show no clonal relationships and can therefore be assumed to have developed independently.. HNSCC or adjacent premalignant lesions that are located very close to each other more often show identical genetic changes. Califano et al. (12) observed a clonal relationship between five HNSCCs and the tumor-adjacent premaligant lesions by using LOH pattern analysis. Two patients with synchronous HNSCC tumors lying close to each other were investigated for clonality by Van Oijen et al. (80) . The first patient showed an ...
Fingerprint Dive into the research topics of Loss of heterozygosity for chromosome region 11p15 in Wilms tumours is not related to HRAS gene transforming mutations. Together they form a unique fingerprint. ...
Qiu, G.-H.,Lim, C.Y.,Tao, Q.,Tan, L.K.S.,Loh, K.S.,Srivastava, G.,Tsai, S.-T.,Tsao, S.W. (2004). The candidate tumor suppressor gene BLU, located at the commonly deleted region 3p21.3, is an E2F-regulated, stress-responsive gene and inactivated by both epigenetic and genetic mechanisms in nasopharyngeal carcinoma. Oncogene 23 (27) : 4793-4806. [email protected] Repository. https://doi.org/10.1038/sj.onc.1207632 ...
BREEDING OF FRUIT CROPS. Lecture.3 - Problems in fruit breeding - poly ploidy and heterozygosity. The main objectives of fruit breeding are to get maximum quality production per unit area with low cost, besides tolerance to biotic and abiotic stresses, the obje
PRIMARY OBJECTIVES:. I. Classify patients with renal tumors by histological categorization, surgico-pathological stage, presence of metastases, age at diagnosis, tumor weight, and loss of heterozygosity for chromosomes 1p and 16q, to define eligibility for a series of therapeutic studies. (Loss of heterozygosity [LOH] testing discontinued as of April 2014) II. Maintain a biological samples bank to make specimens available to scientists to evaluate additional potential biological prognostic variables and for the conduct of other research by scientists.. SECONDARY OBJECTIVES:. I. Monitor outcome for those patients who are not eligible for a subsequent therapeutic study.. II. Describe whether the pulmonary tumor burden correlates with outcome in stage IV patients.. III. Describe the sensitivity and specificity of abdominal computed tomography (CT) by comparison with surgical and pathologic findings for identification of local tumor spread beyond the renal capsule to adjacent muscle and organs, ...
PRIMARY OBJECTIVES:. I. Classify patients with renal tumors by histological categorization, surgico-pathological stage, presence of metastases, age at diagnosis, tumor weight, and loss of heterozygosity for chromosomes 1p and 16q, to define eligibility for a series of therapeutic studies. (Loss of heterozygosity [LOH] testing discontinued as of April 2014) II. Maintain a biological samples bank to make specimens available to scientists to evaluate additional potential biological prognostic variables and for the conduct of other research by scientists.. SECONDARY OBJECTIVES:. I. Monitor outcome for those patients who are not eligible for a subsequent therapeutic study.. II. Describe whether the pulmonary tumor burden correlates with outcome in stage IV patients. (Completed as of Amendment 7) III. Describe the sensitivity and specificity of abdominal computed tomography (CT) by comparison with surgical and pathologic findings for identification of local tumor spread beyond the renal capsule to ...
As of 2015, the cause of the majority of myeloma cancers is not known, but progress is being made in understanding how mutations in DNA turn tumor suppressor genes on and off, explains the American...
GlossaryGene diversityGene diversity is a measure of the expected heterozygosity in a sample of gene copies collected at a single locus. It is a summary statistic used to represent patterns of molecul
Alnylams third quarter 2013 loss of 48 cents per share was wider than the Zacks Consensus Estimate of a loss of 38 cents per share.
The foregoing examples show that the finding of population heterozygote advantage, as in the infectious disease studies cited, does not support an inference of allele-specific overdominance, the condition of primary interest as an immunological hypothesis and a mechanism for the maintenance of MHC diversity. Put another way, population heterozygote advantage may appear due to a combination of the two distinct mechanisms we defined in the Introduction: the protective or detrimental effects of particular alleles (R and S alleles in our model), and the effects of heterozygosity itself. The effects of R and S alleles appear as effects of heterozygosity vs. homozygosity because heterozygotes and homozygotes will in general carry different distributions of S and R alleles; thus, in an analysis that fails to condition on the alleles carried, heterozygosity is confounded with the alleles carried.. One advantage of correctly separating the effects of individual alleles from the effects of heterozygosity ...
TY - JOUR. T1 - Evidence for common clonal origin of multifocal lung cancers. AU - Wang, Xiaoyan. AU - Wang, Mingsheng. AU - MacLennan, Gregory T.. AU - Abdul-Karim, Fadi W.. AU - Eble, John N.. AU - Jones, Timothy D.. AU - Olobatuyi, Felix. AU - Eisenberg, Rosana. AU - Cummings, Oscar W.. AU - Zhang, Shaobo. AU - Lopez-Beltran, Antonio. AU - Montironi, Rodolfo. AU - Zheng, Suqin. AU - Lin, Haiqun. AU - Davidson, Darrell D.. AU - Cheng, Liang. PY - 2009/4/1. Y1 - 2009/4/1. N2 - Background Lung cancer is the most common cause of cancer death in the United States. Multiple anatomically separate but histologically similar lung tumors are often found in the same patient. The clonal origin of multiple lung tumors is uncertain. Methods We analyzed 70 lung tumors from 30 patients (23 females and seven males) who underwent surgical resection for lung epithelial tumors, of whom 26 had non-small cell carcinomas and four had carcinoid/atypical carcinoid tumors. All patients had multiple tumors (two to ...
Author(s): Yin, Yi; Petes, Thomas D | Abstract: In the yeast Saccharomyces cerevisiae and most other eukaryotes, mitotic recombination is important for the repair of double-stranded DNA breaks (DSBs). Mitotic recombination between homologous chromosomes can result in loss of heterozygosity (LOH). In this study, LOH events induced by ultraviolet (UV) light are mapped throughout the genome to a resolution of about 1 kb using single-nucleotide polymorphism (SNP) microarrays. UV doses that have little effect on the viability of diploid cells stimulate crossovers more than 1000-fold in wild-type cells. In addition, UV stimulates recombination in G1-synchronized cells about 10-fold more efficiently than in G2-synchronized cells. Importantly, at high doses of UV, most conversion events reflect the repair of two sister chromatids that are broken at approximately the same position whereas at low doses, most conversion events reflect the repair of a single broken chromatid. Genome-wide mapping of about 380
As shown in fig 1, 13 of 29 patients showed LOH of the D17S944 marker near the STRAD locus. All informative gastric adenocarcinomas showed LOH of the STRAD marker, whereas only one of the 12 lung adenocarcinomas showed LOH. Four of the eight ovarian and seven of the 12 colon adenocarcinomas showed LOH. To investigate whether LOH near the STRAD gene was specific in these patients, the LOH status near the TP53 and BRCA1 loci was also assessed.. Three of eight ovarian adenocarcinomas showed retention of all informative markers on chromosome 17. In contrast, two cases showed LOH of all informative markers tested. In the other cases, TP53, BRCA1, or another gene might be affected except for ovarian adenocarcinoma 7 where STRAD seemed to be specifically lost.. Two of the 10 gastric adenocarcinomas showed retention of all chromosome 17 markers and another two showed LOH of all informative markers on chromosome 17. In most cases (, 70%) LOH of the TP53 markers was seen. The LOH results were supported by ...
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Try again. Im assuming the data in the table is the allele frequency for the three alleles of locus 1 and that each column is one taxon-and here I reveal my ignorance of genetic terms because I dont know for certain what a taxon is and I havent bothered to look up the definition. For the other 10 loci there may be a fewer or greater number of alleles per locus. If the tabulated data are the allele frequencies, then the answer to 3) is just read off the table multiplied by 100 to express the proportion as a percentage. For 1) you should be able to caluclate %P for each column (taxon?) as ((# loci with multiple alleles)/11)X100. For the number of alleles/locus wouldnt that just be (total # of alleles)/11 calculated for each column? The allele frequencies should just be read off the table, I think. Then the %heterozygosity for each locus can be calculated per taxon with Hardy-Weinberg, as above, and the average heterozygosity would be the average of the %heterozygosity per locus calculated for ...
Results. Comparison of sample recoveries for chromosome 3 fluorescence in-situ hybridization assay and mapping array analysis. Of the 59 patients who underwent FNAB, FISH results were obtained in 38 (64%) of the cases. Parallel, pooled aspirates (range; 2-4) from each patient were processed for simultaneous isolation of DNA and RNA, and the nucleic acid recoveries were determined. Where DNA recoveries exceeded 350 ng, samples were determined to be adequate for mapping array analysis. Of the 59 patients who underwent FNAB, 49 (83%) of the cases yielded adequate DNA, ranging 380-3040 ng. Six of these 49 failed to generate adequate probe for microarray due to melanin coprecipitation. Mapping array data were successfully obtained in the remaining 43 cases (73%) of the total cases. Mapping arrays not only provided data in all 38 cases where FISH data were obtained, but also provided data in five patients in whom FISH data were not obtained.. Comparison of findings of chromosome 3 fluorescence in-situ ...
Colorectal Cancer (CRC) is a genetic disease in which progression is driven by the accumulation of mutations or epigenetic alterations in oncogenes and tumor su...
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In this way, the corresponding DNA was obtained from the tumours and the indicated cellular lines, in order to subsequently determine the frequency of homozygotic delections, loss of heterozygosity, instability of microsatellites, hypermethylation of the promoter and the level of genetic expression of the previously mentioned genes, all of these being mechanisms that can inactivate the tumour suppressor genes and, thus, favour the formation of the tumour. The techniques used in order to carry out this analysis were differential PCR, standard PCR, MSP and RT-PCR. The profile of gains and losses of genetic material at a global genome level was also studied by means of CGH ...
R, this data suggests that Mtap may be acting in a haploinsufficient manner. To develop evidence that germline heterozygosity for Mtap can have phenotypic
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Before I registered, when I was being a timmy, I thought motifaking was simple at best. One regular poked me, and a second hit me pretty good. I could have dropped this site right then. But I spent a some time lurking and learning instead. ...
TY - JOUR. T1 - Loss of Heterozygosity for Loci on the Long Arm of Chromosome 6 in Human Malignant Melanoma. AU - Millikin, D.. AU - Trent, J.. PY - 1991/10/15. Y1 - 1991/10/15. N2 - Malignant melanoma has been documented to display recurring abnormalities of chromosome 6, particularly the long arm (6q). Restriction fragment length polymorphism analysis was used as a molecular genetic approach to examine loci on chromosome 6q for loss of constitutional heterozygosity (LOH). Five DNA markers that recognize restriction fragment length polymorphisms along 6q and one polymorphic DNA marker for 6p were used to screen 20 autologous pairs of tumor DNA and normal DNA to determine the tumor and constitutional genotypes of each patient. LOH on chromosome 6q was identified at 21 of S3 inform ative loci (40%). Five patients with more than one informative locus had allele losses consistent with the loss of the entire long arm (or of an entire copy) of chromosome 6, while four other patients demonstrated ...
TY - JOUR. T1 - Molecular analysis of two putative tumour suppressor genes, PTEN and DMBT, which have been implicated in glioblastoma multiforme disease progression. AU - Somerville, R. P.T.. AU - Shoshan, Y.. AU - Eng, C.. AU - Barnett, G.. AU - Miller, D.. AU - Cowell, J. K.. N1 - Funding Information: This work was in part supported by the Rose-Ella Burkhardt Endowment Fund.. PY - 1998/10/1. Y1 - 1998/10/1. N2 - The transition from low grade astrocytoma to glioblastoma multiforme is almost always accompanied by the loss of genetic markers from chromosome 10. Recently two genes, PTEN/MMAC1/TEP1 and DMBT, have been isolated from chromosome 10q. We have analysed these two genes for mutations in 21 primary glioblastomas. An exon by exon screen of the PTEN gene using SSCP failed to identify any mutations in this tumour series. In contrast, 38% of tumours showed intragenic homozygous deletions in the DMBT gene. The fact that the majority of gliomas do not carry mutations in either of these genes ...
TY - JOUR. T1 - Molecular disorders in transitional vs. peripheral zone prostate adenocarcinoma. AU - Colombo, Piergiuseppe. AU - Patriarca, Carlo. AU - Alfano, Rosa Maria. AU - Cassani, Barbara. AU - Grimaldi, Giorgia Ceva. AU - Roncalli, Massimo. AU - Bosari, Silvano. AU - Coggi, Guido. AU - Campo, Biagio. AU - Gould, Victor E.. PY - 2001/11/1. Y1 - 2001/11/1. N2 - Loss of heterozygosity (LOH) and microsatellite instability (MSI) have been shown to be mechanisms for tumor-suppressor gene inactivation in human oncogenesis. In our study, we examined LOH and MSI using 16 polymorphic markers of DNA for chromosomes 1, 3, 7, 8, 10 and 11. Microdissected tumor samples were isolated from 32 patients, representing 11 foci of incidentally discovered prostate cancer of the transitional zone (TZ), 12 prostate cancer of the peripheral zone (PZ) and 10 of high-grade PIN. We found loss of heterozygosity in the TZ group in 91% of informative cases (10/11) with al least 1 marker compared to 58% of cases (7/12) ...
The shrimp Nematocarcinus lanceopes Bate, 1888 is found in the deep sea around Antarctica and sub-Antarctic islands. Previous studies on mitochondrial data and species distribution models provided evidence for a homogenous circum-Antarctic population of N. lanceopes. However, to analyze the fine-scale population genetic structure and to examine influences of abiotic environmental conditions on population composition and genetic diversity, a set of fast evolving nuclear microsatellite markers is required. We report the isolation and characterization of nine polymorphic microsatellite markers from the Antarctic deep-sea shrimp species Nematocarcinus lanceopes (Crustacea: Decapoda: Caridea). Microsatellite markers were screened in 55 individuals from different locations around the Antarctic continent. All markers were polymorphic with 9 to 25 alleles per locus. The observed heterozygosity ranged from 0.545 to 0.927 and the expected heterozygosity from 0.549 to 0.934. The reported markers provide a novel
Adrenocortical tumors consist of benign adenomas and highly malignant carcinomas with a still incompletely understood pathogenesis. A total of 46 adrenocortical tumors (24 adenomas and 22 carcinomas) were investigated aiming to identify novel genes involved in adrenocortical tumorigenesis. High-resolution single nucleotide polymorphism arrays (Affymetrix) were used to detect copy number alterations (CNAs) and copy neutral losses of heterozygosity (cnLOH). Genomic clustering showed good separation between adenomas and carcinomas, with best partition including only chromosome 5, which was highly amplified in 17/22 malignant tumors. The malignant tumors had more relevant genomic aberrations than benign tumors, such as a higher median number of recurrent CNA (2631 vs 94), CNAs ,100 Kb (62.5 vs 7) and CN losses (72.5 vs 5.5), and a higher percentage of samples with cnLOH (91% vs 29%). Within the carcinoma cohort, a precise genetic pattern (i.e. large gains at chr 5, 7, 12, and 19, and losses at chr ...
In this study we examined the LOH of 11 dinucleotide repeat loci on chromosome 10 in 208 meningiomas of all grades. We investigated the incidence and complexity of LOH relative to tumor progression. For all alleles examined, the incidence of LOH was much higher in all grades than that reported previously, with incidence and complexity of LOH increasing with tumor grade. Mapping of the regions of LOH of all of the tumors defined four regions of chromosomal deletion. These deletions coincide with those found in other cancers, supporting the hypothesis that candidate tumor suppressor genes in these regions contribute to meningeal tumorigenesis and progression.. To expand on previous studies, we examined LOH of alleles used in previous meningioma reports (11, 12, 13, 14, 15) , as well as additional loci mapping near known and candidate tumor suppressor genes on 10q. The present data are in good agreement with our reported data (11) that LOH occurs at markers D10S89 and D10S169 and with the 10q LOH ...
Background: Several cytogenetic studies demonstrated frequent allelic losses at defined regions on chromosome 6 in breast tumors, suggesting the presence of tumor suppressor genes (TSGs) contributing to breast cancer tumorigenesis. Different techniques identified several candidate TSGs on chromosome 6 in breast cancer, but no functional evidence for a TSG function for these genes could be supplied so far. Method: In order to identify key genes and elucidate the regulatory pathways that are involved in the development and progression of breast cancer, we combined array-based expression profiling with the microcell mediated transfer of chromosome 6 into MDA-MB-231 breast cancer cells. Results: Microcell mediated transfer of chromosome 6 into MDA-MB-231 breast cancer cells resulted in hybrids characterised by reduced anchorage dependent growth and a strongly reduced tumorigenicity in nude mice. Comparing the expression profiles of tumorigenic parental cells and non-tumorigenic hybrids we identified ...
Expression profile of wild-type ETV6 in childhood acute leukaemia. Comparative expression analysis of wild-type ETV6 in the disease state showed an absence of expression in ETV6-CBFA2 acute lymphoblastic leukaemia (ALL) when compared with non-ETV6-CBFA2 ALL and acute myeloid leukaemia. Fluorescent in-situ hybridization and loss of heterozygosity studies showed that 73% of the ETV6-CBFA2 samples had a fully or partially deleted second ETV6 allele, explaining the lack of wild-type expression in these patients. Although the second ETV6 allele was identified in the remaining patients, no ETV6 expression was detected. These observations support the hypothesis that loss of ETV6 expression is a critical secondary event for leukaemogenesis in ETV6-CBFA2 ALL.. ...
Recent studies have suggested the existence of a tumor suppressor gene located at chromosome region 5q21. DNA probes from this region were used to study a panel of sporadic colorectal carcinomas. One of these probes, cosmid 5.71, detected a somatically rearranged restriction fragment in the DNA from a single tumor. Further analysis of the 5.71 cosmid revealed two regions that were highly conserved in rodent DNA. These sequences were used to identify a gene, MCC (mutated in colorectal cancer), which encodes an 829-amino acid protein with a short region of similarity to the G protein-coupled m3 muscarinic acetylcholine receptor. The rearrangement in the tumor disrupted the coding region of the MCC gene. Moreover, two colorectal tumors were found with somatically acquired point mutations in MCC that resulted in amino acid substitutions. MCC is thus a candidate for the putative colorectal tumor suppressor gene located at 5q21. Further studies will be required to determine whether the gene is mutated ...
Wallace, Bruce (1957) The effect of heterozygosity for new mutations on viability in Drosophila: a preliminary report. Proceedings of the National Academy of Sciences, 43 (5). pp. 404-407. ...
The role of proteases, endoplasmic reticulum stress and SERPINA1 heterozygosity in lung disease and α-1 anti-trypsin deficiency.
Chicago, IL-In children who are at risk for Wilms tumor, the presence of a rare genetic abnormality identifies children who can have a survival benefit from the augmentation or intensification of therapy. The abnormality-loss of heterozygosity (LOH) on chromosomes 1p and 16q (LOH 1p/16q)-is associated with worse prognosis in children with Wilms tumor.
View Notes - Lecture 29 - Tumour Suppressor Genes from BIOL BIOL-1F25 at Brock University. Lecture 29 Background Reading Textbook, Chapter 19. Tumour Suppressor Genes Biology 1F25 for Biology
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PRIMARY OBJECTIVES:. I. Classify patients with renal tumors by histological categorization, surgico-pathological stage, presence of metastases, age at diagnosis, tumor weight, and loss of heterozygosity for chromosomes 1p and 16q, to define eligibility for a series of therapeutic studies. (Loss of heterozygosity [LOH] testing discontinued as of April 2014). II. Maintain a biological samples bank to make specimens available to scientists to evaluate additional potential biological prognostic variables and for the conduct of other research by scientists.. SECONDARY OBJECTIVES:. I. Monitor outcome for those patients who are not eligible for a subsequent therapeutic study.. II. Describe whether the pulmonary tumor burden correlates with outcome in stage IV patients.. III. Describe the sensitivity and specificity of abdominal computed tomography (CT) by comparison with surgical and pathologic findings for identification of local tumor spread beyond the renal capsule to adjacent muscle and organs, ...
The effect of periodic loss on the performance of refractive-index gratings has been studied in detail. It is shown that the loss periodicity and relative phase strongly affects the symmetry of the reflection, transmission, and loss spectra. This asymmetry is explained successfully through consideration of the overlap between the standing-wave intensity distribution and the periodic loss pattern.. © 2002 Optical Society of America. Full Article , PDF Article ...
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i assume that an inner ear imbalance is what is affecting her here. this reminds me of my bachelor party many years ago. a buddy arranged for a less-than-attractive, VERY overserved dancer to give me a lapper. if memory serves,...
mouse Rassf3 protein: mouse homolog of the putative tumor suppressor gene RASSF1; about 60% homology at the amino acid level, possibly involved in Ras-like signaling pathways; RefSeq NM_138956
Video created by The State University of New York for the course Big Data, Genes, and Medicine. After this module, you will be able to 1. List different types of gene alterations. 2. Compare and contrast methods for detecting gene mutations. 3. ...
Réactivité: Roussette (Chauve-souris), Boeuf (Vache), Chien and more. Comparez 56 LZTS1 Anticorps. Commandez directement chez anticorps-enligne.fr.
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... is a term in genetics that is an abbreviation for "Recombinant Loss of Heterozygosity". This is a type of mutation which ... Krahn, Thomas (2005). "Recombinational Loss of Heterozygosity (recLOH)". DNA-Fingerprint, Germany. Retrieved 2006-07-11. CS1 ... Because differences are lost, heterozygosity is lost. Recombination on the Y-chromosome does not only take place during meiosis ...
... this is referred to as loss of heterozygosity or LOH. LOH can be detected in microdissected LAM cells, in angiomyolipomas and ... Loss of TSC1/TSC2 in LAM induces uncontrolled LAM cell growth and increases LAM cell viability. Upregulation of STAT1 and STAT3 ... The second hit event in LAM cells is often loss of the chromosomal region containing the wild-type copy of the TSC2 gene; ... El-Hashemite, N; Walker, V; Zhang, H; Kwiatkowski, D (2003). "Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor ...
Serensits P, He H, Ning W, Liu J (March 2007). "SoftGenetics Application Note - Loss of Heterozygosity Detection with ... and loss of heterozygosity (LOH). MSI and LOH in particular have been associated with cancer cell genotypes for colon, breast ...
For example, SNP arrays can be used to study loss of heterozygosity (LOH). LOH occurs when one allele of a gene is mutated in a ... Zheng, Hai-Tao (2005). "Loss of heterozygosity analyzed by single nucleotide polymorphism array in cancer". World Journal of ...
It resides at chromosome 4q24, in a region showing recurrent microdeletions and copy-neutral loss of heterozygosity (CN-LOH) in ... Loss-of-function TET2 mutations may also have a possible causal role in atherogenesis as reported by Jaiswal S. et al. Loss-of- ... June 2009). "Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms". ... July 2011). "Tet2 loss leads to increased hematopoietic stem cell self-renewal and myeloid transformation". Cancer Cell. 20 (1 ...
The loss of the functional copy is called loss of heterozygosity (LOH). Any resulting errors in DNA repair may result in cell ...
"Silencing the intestinal GUCY2C tumor suppressor axis requires APC loss of heterozygosity". Cancer Biology & Therapy. 21 (9): ... "Loss Of This Hormone Could Up Your Chance Of Colon Cancer". Medical Daily. Retrieved 2020-08-15. Blomain, Erik S.; Merlino, ...
Evidence supporting this hypothesis includes loss of heterozygosity on the 17p chromosome. The p53 (a tumor suppressor gene in ... Pain or discomfort: numbness, burning, or "pins and needles." Dizziness and/or loss of balance. Soft tissue sarcomas have been ... hair loss, lethargy, weakness, etc. Patient response to treatment will vary based on age, health, and the tolerance to ...
Loss-of-heterozygosity (LOH) of the 7q22.1 chromosomal region, where CUX1 resides, was reported in 8-22% of various cancer, and ... Zeng WR, Watson P, Lin J, Jothy S, Lidereau R, Park M, and Nepveu A. "Refined mapping of the region of loss of heterozygosity ... "Loss of heterozygosity in 7q myeloid disorders: clinical associations and genomic pathogenesis". Blood 2012, 119(25):6109-17. ... "Loss Of Heterozygosity and Reduced Expression Of the Cutl1 Gene In Uterine Leiomyomas". Oncogene 1997, 14(19):2355-65. ...
Loss of heterozygosity for chromosomes 1p and 16q is an adverse prognostic factor in favorable-histology Wilms tumor: a report ... Concomitant gain of 7 and loss of 10 is essentially pathognomonic for GBM EGFR amplification, loss of PTEN (on 10q), and loss ... Both autozygous segments and UPD will show loss of heterozygosity (LOH) with a copy number of two by SNP array karyotyping. The ... Onken MD, Worley LA, Person E, Char DH, Bowcock AM, Harbour JW (2007). "Loss of heterozygosity of chromosome 3 detected with ...
Ariyanayagam-Baksh SM, Baksh FK, Swalsky PA, Finkelstein SD (2004). "Loss of heterozygosity in the MXI1 gene is a frequent ... non-coding region that allows the detection of loss of heterozygosity of chromosome 10q25 in glioblastomas". Hum. Genet. 95 (6 ... Prochownik EV, Eagle Grove L, Deubler D, Zhu XL, Stephenson RA, Rohr LR, Yin X, Brothman AR (1999). "Commonly occurring loss ...
"High rates of loss of heterozygosity on chromosome 19p13 in human breast cancer". Br. J. Cancer. 84 (4): 493-8. doi:10.1054/ ...
De Souza AT, Hankins GR, Washington MK, Fine RL, Orton TC, Jirtle RL (1995). "Frequent loss of heterozygosity on 6q at the ... "M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity". Nat. Genet. 11 (4): 447-9. doi: ...
Loss of heterozygosity (LOH) at the CI-MPR locus has been displayed in multiple cancer types including liver and breast. ... De Souza AT, Hankins GR, Washington MK, Fine RL, Orton TC, Jirtle RL (1995). "Frequent loss of heterozygosity on 6q at the ... "M6P/IGF2R gene is mutated in human hepatocellular carcinomas with loss of heterozygosity". Nat. Genet. 11 (4): 447-9. doi: ... Studies of multiple human cancers have shown that a loss of the CI-MPR function is associated with a progression in ...
"Loss of Heterozygosity (LOH) Profiles--Validated Risk Predictors for Progression to Oral Cancer". Cancer Prevention Research. 5 ... Loss the normal organization of the epithelial layers. The distinction between the epithelial layers may be lost. Normally ...
Cvetkovic D, Pisarcik D, Lee C, Hamilton TC, Abdollahi A (2004). "Altered expression and loss of heterozygosity of the LOT1 ...
Loss of heterozygosity: loss of one allele, either by a deletion or a genetic recombination event, in an organism that ... Loss-of-function mutations, also called inactivating mutations, result in the gene product having less or no function (being ... Depurination - Loss of a purine base (A or G) to form an apurinic site (AP site). ... Deletions of large chromosomal regions, leading to loss of the genes within those regions. ...
2007). "Loss of heterozygosity in the RAD54B region is not predictive for breast carcinomas". Pol J Pathol. 58 (1): 3-6. PMID ... Inhibitors of PARP1 likely impede alternative DNA repair responses that might otherwise compensate for loss of the RAD54B ...
"Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3 ... Marchong MN, Chen D, Corson TW, Lee C, Harmandayan M, Bowles E, Chen N, Gallie BL (2005). "Minimal 16q genomic loss implicates ... Braungart E, Schumacher C, Hartmann E, Nekarda H, Becker KF, Höfler H, Atkinson MJ (2000). "Functional loss of E-cadherin and ...
Typically, this leads to a loss of genetic diversity and a reduction in heterozygosity. Like the other members of its genus, ... Markert, J. A.; Grant, P. R.; Grant, B. R.; Keller, L. F.; Coombs, J. L. & Petren, K. (2004). "Neutral locus heterozygosity, ...
... loss of heterozygosity, and expression levels of glycine N-methyltransferase in prostate cancer". Clinical Cancer Research. 13 ...
"Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3 ...
"Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3 ... and a loss in muscular tension. Mice died within two months of transgene expression, mainly due to spontaneous Ventricular ...
"Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3 ... is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity ... Deubiquitinase function of A20 was shown to remove ubiquitin chains from VE-cadherin, thereby prevented loss of VE-cadherin ...
Dong JT, Boyd JC, Frierson HF Jr (2001). "Loss of heterozygosity at 13q14 and 13q21 in high grade, high stage prostate cancer ... Xu F, Zhang X, Lei Y, Liu X, Liu Z, Tong T, Wang W (2010). "Loss of repression of HuR translation by miR-16 may be responsible ... The fact that mir-16 microRNA loss is observed in a large proportion of cells indicates the change occurred early in cancer ...
"Loss of heterozygosity at 2q37 in sporadic Wilms' tumor: putative role for miR-562". Clinical Cancer Research. 15 (19): 5985-92 ...
Grundy RG, Pritchard J, Scambler P, Cowell JK (July 1998). "Loss of heterozygosity for the short arm of chromosome 7 in ...
"Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3 ... is located in a six-cadherin cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity ...
A rare null phenotype in Japanese individuals results from heterozygosity for an inhibitor gene. In(Jk) in analogy with the In( ... In Polynesians the null allele contains a splice site mutation in intron 5 causing a loss of exon 6 from the mRNA product. In ...
Loss of heterozygosity. *Nucleotide diversity measures polymorphisms on the level of nucleotides rather than on level of loci. ... Heterozygosity in population genetics[edit]. Heterozygosity values of 51 worldwide human populations.[7] Sub-Saharan Africans ... heterozygosities are compared, defined as follows for diploid individuals in a population: Observed. H. o. =. ∑. i. =. 1. n. ( ... The mutant alleles are both complete loss-of-function or 'null' alleles, so homozygous null and nullizygous are synonymous.[2] ...
Researchers found far greater genetic heterozygosity than expected.[36] In fact, predators are known for low genetic variance, ... As of 2014, around 5% of the Qatari population suffered from hereditary hearing loss; most were descendants of a consanguineous ... Breeders must avoid breeding from individuals that demonstrate either homozygosity or heterozygosity for disease causing ... hearing loss, neonatal diabetes, limb malformations, disorders of sex development, schizophrenia and several others.[63][76] ...
... losses of heterozygosity (LOH). This excess LOH was thought to be due to excess recombination caused by induced expression of ... Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis.[51] ... Rad51 has a crucial function in meiotic prophase in mice and its loss leads to depletion of late prophase I spermatocytes.[33] ...
"Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3 ...
Damage to these areas therefore results in the major symptoms of Leigh syndrome-loss of control over functions controlled by ... Both compound heterozygosity and homozygous mutations have been observed in French Canadian Leigh syndrome. This subtype of the ... Other neurological symptoms include peripheral neuropathy, loss of sensation in extremities caused by damage to the peripheral ... A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. ...
Loss of heterozygosity and extensive breast inflammation upon first clinical examination have a significantly worse prognosis.[ ... Searches for biomolecular characteristics produced a broad number of possible markers, such as loss of LIBC and WISP3 ...
Inbreeding depression is the loss of fitness due to loss of genetic diversity. Inbred strains tend to be homozygous for ... harbour no heterozygosity).[15][16] It has been shown[11] that hybrid vigor in an allopolyploid hybrid of two Arabidopsis ... It attributes the poor performance of inbred strains to loss of genetic diversity, with the strains becoming purely homozygous ... Shull aimed to avoid limiting the term to the effects that can be explained by heterozygosity in Mendelian inheritance.[1] ...
2006). "Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin a accumulation". Human ... Mutations may also lead to the truncation (shortening) of the WRNp protein, leading to the loss of its nuclear localization ... Affected individuals can exhibit growth retardation, short stature, premature graying of hair, hair loss, wrinkling, ... loss of bone mass; telangiectasia; and malignancies.[3][9] In fact, the prevalence of rare cancers, such as meningiomas, are ...
Heterozygosity for this mutation results in a fully penetrant phenotype on most genetic backgrounds, with mice on a sensitive ... If malignancy develops, this may present with weight loss, altered bowel habit, or even metastasis to the liver or elsewhere. ...
... no somatic SPRED1 single-point mutation or loss of heterozygosity was found). The M4/M5 phenotype of AML are most closely ... "Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype". Nature Genetics. 39 (9): 1120-6. doi ...
PHD2 erythrocytosis: Heterozygosity for loss-of-function mutations of the PHD2 gene are associated with autosomal dominant ... dehydration). Relative polycythemia is often caused by loss of body fluids, such as through burns, dehydration, and stress. A ...
It can also happen during mitotic division,[1] which may result in loss of heterozygosity. Crossing over is essential for the ...
... might present with loss of heterozygosity. Microsatellites have therefore been routinely used in cancer diagnosis to assess ... c) Replication of the STR locus has led to a loss of one unit owing to a loop in the template strand. (Forster et al. 2015) ... Unlike point mutations, which affect only a single nucleotide, microsatellite mutations lead to the gain or loss of an entire ... Increased heterozygosity in a population will also increase microsatellite mutation rates,[18] especially when there is a large ...
... locus to 8p21 and characterization of a microsatellite repeat marker that shows frequent loss of heterozygosity in human ...
In this equation, HT represents the expected heterozygosity of the total population and HS is the expected heterozygosity of a ... It is being used to determine how habitat loss and fragmentation affects the movement of species.[54] It is also used to ... Both measures of heterozygosity are measured at one loci. In the equation, heterozygosity values expected from the total ... The rate of inbreeding is based on decreased heterozygosity. In other words, the rate at which heterozygosity is lost from a ...
... as loss of heterozygosity (LOH) is frequently observed in such tumours. However, in the sporadic form, both alleles would need ... Though this may seem to be a positive development, Rb-knockdown mice tend to develop severe hearing loss due to degeneration of ...
Overall brine shrimp are abundant, but some populations and localized species do face threats, especially from habitat loss to ... Low crossover recombination during meiosis likely restrains the transition from heterozygosity to homozygosity over successive ... tends to maintain heterozygosity in transmission of the genome from mother to offspring, and to minimise inbreeding depression ...
Threats include habitat loss, vehicle strikes, poisoning, feral dogs, illegal poaching, and occasional outbreaks of feline ... Jose Ruiz-Lopez, Maria; Ganan, Natalia; Godoy, Jose Antonio (2013). "Heterozygosity-Fitness Correlations and Inbreeding ... They also plan genetic testing of the remains of long-deceased lynx to quantify loss of genetic diversity and improve ... leukemia.[31] Chronic renal illness affects some captive animals.[32] Habitat loss is due mainly to infrastructure improvement ...
... loss of heterozygosity (LOH),[35] Copy number variation (detected both by comparative genomic hybridization (CGH),[32] and ... have used parsimony to reconstruct the relationships between biopsy samples based on loss of heterozygosity.[79] Phylogenetic ... while in most cases the loss is due to methylation of its promoter region.[50] Similarly, when loss of expression of the DNA ... Loss of estrogen receptor alpha (ERα)[110] *Although this may be a mechanism of resistance in a minority of women, most ERα+ ...
Human facial preferences have been shown to correlate with both MHC-similarity and MHC-heterozygosity.[87] Research into MHC- ... so it appears disadvantageous to display many different MHC alleles due to the increased loss of T-cells,[43] which aid an ... This is believed to be so it promotes heterozygosity improving the chances of survival for the offspring. ... "MHC-heterozygosity and human facial attractiveness". Evolution and Human Behavior. 26 (3): 213-226. doi:10.1016/j.evolhumbehav. ...
When the second copy mutates in a certain cell due to a random event, Loss of Heterozygosity (LOH) occurs and the SDHB protein ... 2010). "Loss of SDHB and NF1 genes in a malignant phyllodes tumor of the breast as detected by oligo-array comparative genomic ...
Cappellen, D; Gil Diez de Medina, S; Chopin, D (1997). "Frequent loss of heterozygosity on chromosome 10q in muscle-invasive ... The most common known aberrations include the PIK3CA gene mutation and the loss-of-function mutations or epigenetic silencing ... loss of function or expression of phosphatase and tensin homolog (PTEN), and the proline-rich inositol polyphosphatase, which ... with the gene for PI3Kb might be a therapeutic approach for high-risk bladder cancers with mutant PTEN and E-cadherin loss. ...
... and loss of heterozygosity.[25] Recent research suggests that the human papillomavirus (HPV) may also play a role in the ... Keratinocytes in the stratum malphigii may show a loss of polarity, pleomorphism, and anaplasia.[22] Some irregular downward ...
The Loss of Adaptive Plasticity during Long Periods of Environmental Stasis. The American Naturalist (Chicago, IL: University ... Lewontin, R. C.; Hubby, J. L. A Molecular Approach to the Study of Genic Heterozygosity in Natural Populations. II. Amount of ... Variation and Degree of Heterozygosity in Natural Populations of Drosophila Pseudoobscura. Genetics. 1966, 54 (2): 595-609. PMC ...
Whitley CB, Anderson RA, McIvor RS (April 1992). "Heterozygosity for the "DN allele" (G533-greater than A) of the beta- ... "Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside ...
... because they can detect copy neutral loss of heterozygosity (acquired uniparental disomy). Copy neutral LOH can be biologically ... Fatigue, loss of appetite, fever, and joint pain are common. Symptoms depend on primary tumor locations and metastases if ... Gurney, J. G.; Tersak, J. M.; Ness, K. K.; Landier, W.; Matthay, K. K.; Schmidt, M. L. (2007). "Hearing Loss, Quality of Life, ... Subtypes 2A and 2B: found in unfavorable widespread neuroblastoma, stages 3 and 4, with 11q loss and 17q gain without N-myc ...
... Bert Gold bgold at itsa.ucsf.edu Sat Nov 18 19:04:49 EST 1995 *Previous message: loss of ... Loss of heterozygosity is the observation that malignant tissues present in an individual bearing a tumor supressor gene ...
Loss of heterozygosity due to loss of one parental copy in a region is also called hemizygosity in that region. The loss of ... resulting in a loss of heterozygosity event, and leaving no tumor suppressor gene to protect the body. Loss of heterozygosity ... "Mapping loss of heterozygosity in normal human breast cells from BRCA1/2 carriers" - BJC "Loss of Heterozygosity Studies on ... Loss of heterozygosity (LOH) is a cross chromosomal event that results in loss of the entire gene and the surrounding ...
Targeting loss of heterozygosity for cancer-specific immunotherapy. Michael S. Hwang, Brian J. Mog, Jacqueline Douglass, ... Targeting loss of heterozygosity for cancer-specific immunotherapy. Michael S. Hwang, Brian J. Mog, Jacqueline Douglass, ... Targeting loss of heterozygosity for cancer-specific immunotherapy. Michael S. Hwang, Brian J. Mog, Jacqueline Douglass, View ... Targeting loss of heterozygosity for cancer-specific immunotherapy Message Subject (Your Name) has sent you a message from PNAS ...
Loss of heterozygosity of the URA3 marker in III-205::URA3/III-205::ura3-91 diploid cells: In the RD101 diploid strain, the ... 1997 Loss of heterozygosity or: how I learned to stop worrying and love mitotic recombination. Am. J. Hum. Genet. 61: 995-999. ... Spontaneous Loss of Heterozygosity in Diploid Saccharomyces cerevisiae Cells. Mina Hiraoka, Kei-ichi Watanabe, Keiko Umezu and ... Loss of heterozygosity of the autologous URA3 marker located on chromosome V: To gain a more generalized view of chromosome ...
... Cancer Lett. 2001 Mar 10;164(1):97-104. doi: 10.1016 ... Taking advantage of this polymorphism within EPHB2, we surveyed the loss of heterozygosity (LOH) status of this gene in ...
Avhandlingar om LOSS OF HETEROZYGOSITY. Sök bland 92183 avhandlingar från svenska högskolor och universitet på Avhandlingar.se. ... Sökning: loss of heterozygosity. Visar resultat 1 - 5 av 59 avhandlingar innehållade orden loss of heterozygosity. . ... Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; colorectal cancer; gene editing; loss of heterozygosity; ... 1. Molecular Pathogenesis of Cervical Carcinoma Analysis of Clonality, HPV16 Sequence Variations and Loss of Heterozygosity. ...
Loss of heterozygosity was observed in 38 of 80 (48%) tumours that were informative for at least one locus. The analysis ... Multiple regions of chromosome 6q affected by loss of heterozygosity in primary human breast carcinomas.. Sheng ZM1, Marchetti ... A total of 80 primary human breast carcinoma DNAs were analysed for loss of heterozygosity (LOH) on the long arm of chromosome ...
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, ... Loss of Heterozygosity. Subscribe to New Research on Loss of Heterozygosity The loss of one allele at a specific locus, caused ... Allelic Losses; Heterozygosity Loss; Allelic Loss; Heterozygosity, Loss of. Networked: 0 relevant articles (0 outcomes, 0 ... by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when ...
Chromosome 3p loss of heterozygosity is associated with a unique metabolic network in clear cell renal carcinoma. Francesco ... Third, loss of heterozygosity in metabolic genes adjacent to VHL affects several pathways previously identified as down- ... Thereafter, loss of heterozygosity in key metabolic genes adjacent to VHL compromise nucleotide, one-carbon, and inositol ... Chromosome 3p loss of heterozygosity is associated with a unique metabolic network in clear cell renal carcinoma ...
Loss of heterozygosity and methylation of multiple tumor suppressor genes on chromosome 3 in hepatocellular carcinoma.. Zhang X ... A total of 48 paired HCCs and noncancerous tissues were used to detect loss of heterozygosity (LOH) and the methylation ...
Chromosome (chr) 18 loss of heterozygosity (LOH) was the most frequent copy number alteration identified; however, not all ... Patterns of chromosome 18 loss of heterozygosity in multifocal ileal neuroendocrine tumors.. ... Our data revealed three distinct patterns of chr18 allelic loss, indicating that primary tumors from the same patient can ...
Chromosome arm 16q is a common site of loss of heterozygosity (LOH) in Wilms tumors (WTs). The mechanism and consequences of ... Chromosome arm 16q is a common site of loss of heterozygosity (LOH) in Wilms tumors (WTs). The mechanism and consequences of ... Thus, its loss might predispose to de novo methylation of the maternal allele of H19 and loss of imprinting (LOI) of IGF2 in ... Chromosome arm 16q in Wilms tumors: unbalanced chromosomal translocations, loss of heterozygosity, and assessment of the CTCF ...
Hepatocellular Carcinoma Caused by Loss of Heterozygosity in Lkb1 Gene Knockout Mice Masayuki Nakau, Hiroyuki Miyoshi, Michael ... Western blotting and PCR analyses showed loss of Lkb1 heterozygosity in all of the HCC tissues examined, indicating a tumor ... 3 The abbreviations used are: PJS, Peutz-Jeghers syndrome; LOH, loss of heterozygosity; RT-PCR, reverse transcription-PCR; TGF ... Hepatocellular Carcinoma Caused by Loss of Heterozygosity in Lkb1 Gene Knockout Mice ...
Loss of Heterozygosity and Its Correlation with Expression Profiles in Subclasses of Invasive Breast Cancers. Zhigang C. Wang, ... Loss of heterozygosity (LOH) frequency of common LOH sites in cluster I and II tumors identified by gene expression profiles. ... Common loss of heterozygosity (LOH) regions in invasive breast cancers identified using single nucleotide polymorphism array ... Osborne R. J., Hamshere M. G. A genome-wide map showing common regions of loss of heterozygosity/allelic imbalance in breast ...
... R.F ... Key words: Myelodysplastic syndrome; Acute myeloid leukemia; Cytogenetic abnormalities; Loss of heterozygosity Text ... Loss of heterozygosity (LOH) describes the homozygous state of a distinct chromosomal region and points to the presence of ... We evaluated loss of heterozygosity (LOH) in 44 patients (18 MDS and 26 AML, diagnosed according to WHO classification criteria ...
Forche, A., G. May and P. T. Magee, 2005 Demonstration of loss of heterozygosity by single-nucleotide polymorphism microarray ... A Mutation in Tac1p, a Transcription Factor Regulating CDR1 and CDR2, Is Coupled With Loss of Heterozygosity at Chromosome 5 to ... A Mutation in Tac1p, a Transcription Factor Regulating CDR1 and CDR2, Is Coupled With Loss of Heterozygosity at Chromosome 5 to ... A Mutation in Tac1p, a Transcription Factor Regulating CDR1 and CDR2, Is Coupled With Loss of Heterozygosity at Chromosome 5 to ...
Chromosome loss with concomitant duplication and recombination both contribute most to loss of heterozygosity in vitro. Genes ... Loss of heterozygosity on chromosome 1 in RHD−/RHCE*C− (only RHCE*c+/RHCE*e+) erythropoietic blast-forming units as determined ... Frequent loss of heterozygosity in the region of D1S450 at 1p36. 2 in myelodysplastic syndromes. Leuk Res 2001;25:855-858. ... Loss of heterozygosity on chromosome 1 in RHD-negative but not RHD-positive erythropoietic blast-forming units. DNA samples ...
Loss of Heterozygosity*. Melanocytes / metabolism, pathology. Melanoma / genetics*, pathology, surgery. Microsatellite Repeats ... hence we screened primary melanoma samples for losses of heterozygosity (LOH), and acquired melanocytic naevi and melanomas for ... In melanomas, the chromosomal region 10q22-qter is commonly affected by losses, ... suggesting loss of 1 DMBT1 allele. Three further melanomas showed LOH at 1 informative locus but were heterozygous for the ...
3-galactosyltransferase-deficient miniature pigs produced by serial cloning using neonatal skin fibroblasts with loss of ... heterozygosity.(Report) by Asian - Australasian Journal of Animal Sciences; Agricultural industry Biological sciences ... Loss of heterozygosity in skin fibroblasts from heterozygous [alpha]GT KO piglets After IB4-Dynabead selection, 22 colonies ... The procedure to isolate homozygous [alpha]GT knockout (KO) cells derived from loss of heterozygosity (LOH) in heterozygous KO ...
Loss of Heterozygosity Analysis.. The overall frequency of LOH as indicated by the mean FAL values was 0.33 (SD = 0.19) for ... Loss of Heterozygosity and Immunohistochemistry of Adenocarcinomas of the Esophagus and Gastric Cardia. Willem A. Marsman, ... The specific losses of heterozygosity identified for the two groups are described in Table 2⇓ . LOH was most frequently found ... Loss of heterozygosity (LOH) is a common mechanism responsible for carcinogenesis. Several groups studied LOH in patients with ...
Loss of heterozygosity (LOH) profiles-validated risk predictors for progression to oral cancer. Cancer Prev Res 2012;5:1081-9. ... Semiautomated assessment of loss of heterozygosity and replication error in tumors. Cancer Res 1996;56:3331-7. ... Effects of a topically applied bioadhesive berry gel on loss of heterozygosity indices in premalignant oral lesions. Clin ... a Mucoadhesive Freeze-Dried Black Raspberry Gel Induces Clinical and Histologic Regression and Reduces Loss of Heterozygosity ...
Mitotic recombination is responsible for the loss of heterozygosity in cultured murine cell lines.. F K Nelson, W Frankel, T V ... Mitotic recombination is responsible for the loss of heterozygosity in cultured murine cell lines. ... Mitotic recombination is responsible for the loss of heterozygosity in cultured murine cell lines. ... Mitotic recombination is responsible for the loss of heterozygosity in cultured murine cell lines. ...
p53 and survival in early onset breast cancer: analysis of gene mutations, loss of heterozygosity and protein accumulation. ... Mutations were found in 17% of the cases, whereas loss of heterozygosity (LOH) and protein accumulation were observed in 42% ... p53 protein accumulation and of loss of heterozygosity (LOH) at the TP53 locus in young (age ,37 years) breast cancer patients ... Moreover, patients with losses of this locus were observed to have a poorer prognosis (p=0.02S). In order to pinpoint the ...
Grundei T, Vogelsang H, Ott K, Mueller J, Scholz M, Becker K, Fink U, Siewert JR, Höfler H and Keller G: Loss of heterozygosity ... Chang SC, Lin JK, Lin TC and Liang WY: Loss of heterozygosity: An independent prognostic factor of colorectal cancer. World J ... Characterization and clinical evaluation of microsatellite instability and loss of heterozygosity in tumor‑related genes in ... MSI, microsatellite instability; LOH, loss of heterozygosity; OS, overall survival; DFS, disease-free survival; MSS, ...
Stress alters rates and types of loss of heterozygosity in Candida albicans. mBio 2(4):e00129-11 [PMC free article] [PubMed] ... Stress-Induced Loss of Heterozygosity in Candida: a Possible Missing Link in the Ability to Evolve. Susan M. Rosenberg ... Stress-induced loss of heterozygosity in Candida: a possible missing link in the ability to evolve. mBio 2(5):e00200-11. doi: ... They show that in the pathogenic yeast Candida albicans, loss of heterozygosity (LOH) is also induced by stress. ...
Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms tumor cells.. A E Reeve, S A Sih, A M ... Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms tumor cells. ... Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms tumor cells. ... Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms tumor cells. ...
Genome-wide loss of heterozygosity and copy number alteration in esophageal squamous cell carcinoma using the Affymetrix ... Home » Genome-wide loss of heterozygosity and copy number alteration in esophageal squamous cell carcinoma using the Affymetrix ... including loss of heterozygosity (LOH) and copy number alterations (CNA), for 26 pairs of matched germ-line and micro-dissected ... Fifteen CNA-loss regions (200 kb to 4.3 Mb) and 36 CNAgain regions (200 kb to 9.3 Mb) were also identified. Conclusion: These ...
... including loss of heterozygosity (LOH) and copy number alterations (CNA), either gain or loss, are the focus of substantial ... Genome-wide loss of heterozygosity and copy number alteration in esophageal squamous cell carcinoma using the Affymetrix ... Zhou X, Mok SC, Chen Z, Li Y, Wong DT: Concurrent analysis of loss of heterozygosity (LOH) and copy number abnormality (CNA) ... The Affymetrix 10 K SNP chip is a valid platform to integrate analyses of loss of heterozygosity and copy number alterations. ...
A permutation-based method to identify loss-of-heterozygosity using paired genotype microarray data. Stan Pounds, Cheng Cheng, ... A permutation-based method to identify loss-of-heterozygosity using paired genotype microarray data. BMC Bioinformatics, 9(S-7 ...
Loss of Heterozygosity, Adenoma/*genetics/secretion, Adolescent, Adrenocorticotropic Hormone/*secretion, Adult, Chromosomes, ... These polymorphisms were used as markers for the possible occurrence of loss of heterozygosity (LOH) at the GR gene locus. ... Human adrenocorticotropin-secreting pituitary adenomas show frequent loss of heterozygosity at the glucocorticoid receptor gene ... Human adrenocorticotropin-secreting pituitary adenomas show frequent loss of heterozygosity at the glucocorticoid receptor gene ...
  • The genes BRCA1 and BRCA2 show loss of heterozygosity in samplings of tumors from patients who have germline mutations. (wikipedia.org)
  • Taking advantage of this polymorphism within EPHB2, we surveyed the loss of heterozygosity (LOH) status of this gene in Japanese colorectal tumors. (nih.gov)
  • Patterns of chromosome 18 loss of heterozygosity in multifocal ileal neuroendocrine tumors. (broadinstitute.org)
  • Our data revealed three distinct patterns of chr18 allelic loss, indicating that primary tumors from the same patient can present different LOH patterns including retention of either parental allele. (broadinstitute.org)
  • Chromosome arm 16q is a common site of loss of heterozygosity (LOH) in Wilms tumors (WTs). (nih.gov)
  • We previously characterized genomic instability in esophageal squamous cell carcinomas (ESCC) in terms of loss of heterozygosity (LOH) and copy number (CN) changes in tumors using the Affymetrix GeneChip Human Mapping 500K array in 30 cases from a high-risk region of China. (biomedcentral.com)
  • Loss of heterozygosity was detected in 8 of 14 pheochromocytomas examined: in three of the four VHL‐associated tumors, in four of the nine sporadic tumors, and in the familial pheochromocytoma‐associated tumor. (elsevier.com)
  • Our results showed similar patterns of allelic loss between the 2 groups of tumors on an individual case basis. (elsevier.com)
  • We found that the frequency of loss of heterozygosity was similar at some chromosomal regions in the BRCA2 999del5 and sporadic tumors but significantly different at others. (lsh.is)
  • Loss of heterozygosity mapping suggests that the same chromosome regions are involved in both tumor groups but at elevated frequencies in BRCA2 999del5 tumors. (lsh.is)
  • Chromosome 1 (Chr 1) loss of heterozygosity (LOH) is frequent in a number of nonendocrine tumors and in a few endocrine tumors, and its presence can correlate with tumor aggressiveness and survival. (elsevier.com)
  • A variety of solid tumors show loss of heterozygosity of the long arm of chromosome 16, which is indicative of the potential location of tumor suppressor genes. (edu.au)
  • CDH15 was localized to 16q24.3, in a region that exhibits loss of heterozygosity in a number of sporadic breast cancer tumors. (edu.au)
  • Conversely, 3p loss was seen more frequently with LG tumors (P = 0.02). (elsevier.com)
  • In fact, a subset of 7 (7 of 20) LG tumors accounted for 76% of the total allelic loss in the LG category. (elsevier.com)
  • Borderline tumors showed a low rate of allelic loss. (elsevier.com)
  • To accomplish this, we plan to obtain samples of these cutaneous tumors, to test tumor DNA for loss of heterozygosity, and to measure RNA and protein expression levels. (clinicaltrials.gov)
  • Loss of heterozygosity in 73 human thyroid tumors. (nel.edu)
  • The aim of the study was to perform a comparative analysis of LOH (loss of heterozygosity) in primary tumors as well as peripheral blood and bone marrow (BM) of patients with breast cancer (BCa). (beds.ac.uk)
  • Throughout the karyotypes of these tumors, the combined analysis revealed counter intuitive relationships between copy number and LOH that requires reinterpretation of the significance of copy number gains and losses. (elsevier.com)
  • In addition to copy number changes, however, tumors often undergo loss of heterozygosity for specific regions of the genome without copy number changes and these genetic changes can only be identified using arrays that identify polymorphic alleles at each reference point. (elsevier.com)
  • High frequency of loss of heterozygosity at 11p15 and IGF2 overexpression are not related to clinical outcome in childhood adrenocortical tumors positive for the R337H TP53 mutation. (scienceexchange.com)
  • In contrast to the single case of paternal LOH, IGF2 was overexpressed in tumors with maternal allele loss. (scienceexchange.com)
  • We analyzed loss of heterozygosity (LOH) in 188 tumors from 81 patients in an attempt to further define the location of the MEN1 gene. (elsevier.com)
  • Four tumors (two parathyroid tumors, one gastrinoma, and one lung carcinoid tumor) showed allelic loss that placed the MEN1 gene distal to marker PYGM. (elsevier.com)
  • The frequencies of chromosome loss and chromosome aberration were significantly affected when the marker was located in different chromosomes, suggesting that chromosome-specific elements may affect the processes that led to these alterations. (genetics.org)
  • It is assumed that these deletions indicate loss of tumor suppressor genes on these chromosomes and until these tumor suppressor genes are identified, the functional consequences of these deletions and the molecular basis of these myeloid disorders cannot be completely understood. (scielo.br)
  • But recombination between "mom" and "dad" chromosomes causes loss of heterozygosity (LOH), stretches of "mom-only" or "dad-only" DNA sequence, suddenly revealing effects of mutations accumulated in entire chromosome arms. (pubmedcentralcanada.ca)
  • Atypical ductal hyperplasia of the breast: clonal proliferation with loss of heterozygosity on chromosomes 16q and 17p. (bmj.com)
  • Phenotypic diversity can arise rapidly through loss of heterozygosity (LOH) or by the acquisition of copy number variations (CNV) spanning whole chromosomes or shorter contiguous chromosome segments. (g3journal.org)
  • In contrast to the frequency of 6q loss, LOH was observed at loci on four other chromosomes (1, 11, 16, 17) in only 5% of cases. (elsevier.com)
  • Ritland, SR, Ganju, V & Jenkins, RB 1995, ' Region-specific loss of heterozygosity on chromosome 19 is related to the morphologic type of human glioma ', Genes Chromosomes and Cancer , vol. 12, no. 4, pp. 277-282. (elsevier.com)
  • Methods -Forty three cases of LCIS (30 with associated invasive carcinoma or in situ ductal carcinoma (DCIS) and 13 cases of pure LCIS) were investigated for loss of heterozygosity on chromosomes 16q, 17q, 17p, and 13q using a microdissection technique, polymorphic DNA markers, and the polymerase chain reaction (PCR). (bmj.com)
  • We analyzed microsatellite instability (MSI) and loss of heterozygosity (LOH) at 17 microsatellite markers located on chromosomes 2p, 3p, 5q, 6q, 9p, 9q, 17p and 18q in 19 randomly selected keratoacantomas (KAS), in one cutaneous lesion that histologically could not unequivocally be differentiated from squamous cell carcinoma, and in one patient with multiple KAs of longstanding duration. (unicatt.it)
  • Aneuploidy and loss of heterozygosity (LOH), which are large-scale genome shifts involving whole chromosomes or chromosome arms, occur at higher frequency than point mutations and have the potential to mediate stress survival. (royalsocietypublishing.org)
  • While previous studies have found that copy number variations (CNVs) occur at similar frequency in African American and White CRCs, copy-neutral loss of heterozygosity (cnLOH) has not been investigated. (cdc.gov)
  • Microarray (aCGH + SNP) data analysis revealed that the double inv(3) was a result of acquiring copy neutral loss of heterozygosity of chromosome 3q: arr[hg19] 3q13.21q29(10,344,387-197,802,470)x2 hmz, spanning ~ 94.3 Mb in size. (biomedcentral.com)
  • Double inv(3) is a result of acquired copy neutral loss of heterozygosity, a somatic repair event occurring as a part of mitotic recombination of the partial chromosome 3q. (biomedcentral.com)
  • One recent report using single nucleotide polymorphism (SNP) microarrays revealed evidence of an acquired copy neutral loss of heterozygosity (aCN-LOH) or acquired segmental uniparental disomy (aUPD) of only chromosome 3q, instead of the entire chromosome 3, in a CML patient in blast phase [ 11 ]. (biomedcentral.com)
  • Insights into molecular karyotyping using comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays enable the identification of copy number variations (CNVs) at a higher resolution and facilitate the detection of copy neutral loss of heterozygosity (CN-LOH) otherwise undetectable by conventional cytogenetics. (upm.edu.my)
  • Loss of heterozygosity (LOH) is a cross chromosomal event that results in loss of the entire gene and the surrounding chromosomal region. (wikipedia.org)
  • However, many people remain healthy with such a loss, because there still is one functional gene left on the other chromosome of the chromosome pair. (wikipedia.org)
  • The remaining copy of the tumor suppressor gene can be inactivated by a point mutation or via other mechanisms, resulting in a loss of heterozygosity event, and leaving no tumor suppressor gene to protect the body. (wikipedia.org)
  • Second Hit: While the second hit is commonly assumed to be a deletion that results in loss of the remaining functioning TSG allele, the original published mechanism of RB1 LOH was mitotic recombination/gene conversion/copy-neutral LOH, not deletion. (wikipedia.org)
  • Loss of heterozygosity is the observation that malignant tissues present in an individual bearing a tumor supressor gene mutation or deletion tend to have a mutated or deleted allelomorph at the locus of the tumor suppresor gene in question in the transformed tissue. (bio.net)
  • These data argue against the CTCF gene as a target of Chr16 LOH in WTs, but leave open the possibility that post-transcriptional loss of CTCF protein may account for some instances of LOI. (nih.gov)
  • We evaluated loss of heterozygosity (LOH) in 44 patients (18 MDS and 26 AML, diagnosed according to WHO classification criteria) at diagnosis, using a four-microsatellite marker panel: an intragenic marker on the 7th intron of gene IRF-1 of the 5q31.1 region and three markers located inside the 7q31.1 region and correlated the LOH with karyotype abnormalities. (scielo.br)
  • Loss of heterozygosity (LOH) describes the homozygous state of a distinct chromosomal region and points to the presence of closely located inactivated tumor suppressor gene (TSG) that may be involved in the malignant transformation (1,2). (scielo.br)
  • RH genotyping of single erythropoietic burst-forming units, combined with microsatellite analysis of blood, different tissues, sorted blood cell subsets, and erythropoietic burst-forming units, indicated myeloid lineage-restricted loss of heterozygosity (LOH) of variable chromosome 1 stretches encompassing the RHD / RHCE gene loci. (bloodjournal.org)
  • Analysis of losses of heterozygosity of the candidate tumour suppressor gene DMBT1 in melanoma resection specimens. (biomedsearch.com)
  • Of 38 informative melanomas, 1 nodular melanoma and 2 subcutaneous metastases showed LOH of both microsatellites flanking the gene, suggesting loss of 1 DMBT1 allele. (biomedsearch.com)
  • These polymorphisms were used as markers for the possible occurrence of loss of heterozygosity (LOH) at the GR gene locus. (eur.nl)
  • Screening for gene copy-number alterations (CNAs) has improved by applying genome-wide microarrays, where SNP arrays also allow analysis of loss of heterozygozity (LOH). (semanticscholar.org)
  • Cancer development involves genomic aberrations such as gene copy number gains or losses and allele-specific imbalances [ 1 ]. (biomedcentral.com)
  • In vitro loss of heterozygosity resulted in loss of the chromosomally introduced wild-type PTEN/MMAC1, and ectopic expression of the gene caused cell growth suppression. (uab.edu)
  • We hypothesized that in patients with germline mutations, BMPR2 might behave as a classic tumor suppressor gene, with somatic loss of the wild-type allele contributing to disease progression. (ahajournals.org)
  • Methods Using autofluorescence bronchoscopy that allows visual observation of preinvasive lesions within the upper airways, together with molecular profiling of biopsies using gene sequencing and loss-of-heterozygosity analysis from both preinvasive lesions and from intervening normal tissue, we have monitored individual lesions longitudinally and documented their visual, histological and molecular relationship. (bmj.com)
  • The high frequent allelic loss at 1q31-32 as well as 1q21-23, which was associated with tumor aggressive growth, suggests these two regions harbor putative tumor suppressor gene(s) that are important for aggressive growth of this tumor. (elsevier.com)
  • Loss of heterozygosity (LOH) of the adenomatous polyposis coli (APC) gene triggers a series of molecular events leading to intestinal adenomagenesis. (edu.au)
  • In the present study, we investigated a large collection of sporadic pituitary adenomas (SPA) from the USA, UK, Japan, and France for loss of heterozygosity (LOH) of the 17q22-24 PRKAR1A locus and mutations of the PRKAR1A gene. (bmj.com)
  • Background and Aim: Encoding phosphate and tensin homolog (PTEN) is a cancer suppressor gene and it has been assumed that gene mutation and loss of heterozygosity (LOH) occurs frequently in various types of carcinoma. (elsevier.com)
  • The KLF6 (Kruppel-like transcription factor) tumor suppressor gene on 10p15 is inactivated by loss of heterozygosity (LOH) and/or somatic mutation in a number of human cancers and forced expression of KLF6 in GBM lines inhibits their growth and transformation. (elsevier.com)
  • The latter event leads to phenotypic expression of the recessive allele and is referred to as loss of heterozygosity (LOH). (genetics.org)
  • Thus, its loss might predispose to de novo methylation of the maternal allele of H19 and loss of imprinting (LOI) of IGF2 in WTs. (nih.gov)
  • METHODS--Fourteen cases of ADH were examined for allele loss at loci on chromosome 16q and 17p using a microdissection technique, polymorphic DNA markers and the polymerase chain reaction (PCR). (bmj.com)
  • Five patients with more than one informative locus had allele losses consistent with the loss of the entire long arm (or of an entire copy) of chromosome 6, while four other patients demonstrated terminal deletions of 6q. (elsevier.com)
  • Note the absence of patient-specific signals in the purified leukemic blasts at relapse, demonstrating genomic loss of the corresponding allele. (omixon.com)
  • This striking loss of heterozygosity at the c-raf-1 locus in SCLC indicates that one allele of c-raf-1 is deleted in SCLC. (elsevier.com)
  • Conclusions- Taken together, these data demonstrate that MSI is uncommon in FPAH and suggest that somatic loss of the remaining wild-type BMPR2 allele in heterozygous mutation carriers likely does not play a significant role in modulating the onset or progression of FPAH. (ahajournals.org)
  • These sites and an Rsal polymorphic site in APC allowed us to study 23 human small cell lung cancer (SCLC) and 7 nonsmall cell lung cancer samples for allele loss. (elsevier.com)
  • Of the 23 SCLC samples, 21 (91%) were informative for one or more of these markers, and we found allele loss in more than 80% (17 of 21). (elsevier.com)
  • We have used SNP mapping arrays to simultaneously record copy number changes, loss of heterozygosity and allele ratios (ploidy) in a series of 13 gliomas. (elsevier.com)
  • These results are suggestive that recurrent chromosomal loss of heterozygosity in cancer may uniquely shape the metabolic network. (pnas.org)
  • In our series, unbalanced t(1;16) chromosomal translocations were a major pathway for Chr16 loss of heterozygosity, and this LOH was correlated significantly with tumor anaplasia. (nih.gov)
  • In melanomas, the chromosomal region 10q22-qter is commonly affected by losses, hence we screened primary melanoma samples for losses of heterozygosity (LOH), and acquired melanocytic naevi and melanomas for transcription of DMBT1 and protein expression. (biomedsearch.com)
  • Results: Genome-wide detection of chromosomal changes was performed using the Affymetrix GeneChip 10 K single nucleotide polymorphism (SNP) array, including loss of heterozygosity (LOH) and copy number alterations (CNA), for 26 pairs of matched germ-line and micro-dissected tumor DNA samples. (ebscohost.com)
  • Genome-wide detection of chromosomal changes, including loss of heterozygosity (LOH) and copy number alterations (CNA), either gain or loss, are the focus of substantial attention in cancer research. (springer.com)
  • The chromosomal region bearing the highest frequency of 6q alleile loss (60%) is defined by the marker loci c-MYB and ESR (6q22-23 and 6q24-27). (elsevier.com)
  • LOH analysis has in the past been a vital tool for the discovery of chromosomal regions harboring tumor-suppressor genes when inactivated by the classic mechanism of allelic loss [ 7 ]. (biomedcentral.com)
  • Microsatellite marker and chromosomal arm-based fractional allelic loss (FAL) were calculated in each case. (elsevier.com)
  • Chromosomal arms 5q and 10q showed frequent allelic loss in SH (66.7% and 62.5%, respectively), whereas in BAC, chromosomal arm 17p (52.6%) was frequently affected. (elsevier.com)
  • A statistically significant difference in allelic loss between SH and BAC was located only on chromosomal arm 5q (P = .04). (elsevier.com)
  • We observed firstly molecular karyotypes of 10 matched HCC using Affymetrix single-nucleotide polymorphism (SNP) 6.0 arrays, and found chromosomal fragments with high incidence (more than 70 %) of loss of heterozygosity (LOH). (biomedcentral.com)
  • Allelic loss of chromosomal arm 8p in breast cancer progression. (openrepository.com)
  • Loss of heterozygosity can be identified in cancers by noting the presence of heterozygosity at a genetic locus in an organism's germline DNA, and the absence of heterozygosity at that locus in the cancer cells. (wikipedia.org)
  • Loss of heterozygosity was observed in 38 of 80 (48%) tumours that were informative for at least one locus. (nih.gov)
  • Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells. (asm.org)
  • In an analysis of 11 paired (normal versus tumor) SCLC DNA samples, all five informative cases showed loss of heterozygosity at this locus in the corresponding tumor sample. (elsevier.com)
  • MSI was detected in 1 of 37 lesions at a single locus, BAT-26, whereas heterozygosity at BMPR2 was retained at all informative loci. (ahajournals.org)
  • Loss of the marker near the STRAD locus was seen in 13 of 29 informative cases, including all gastric adenocarcinomas. (bmj.com)
  • Similarly, there was no association between CDX1 mRNA expression and loss of heterozygosity at the CDX1 locus. (ox.ac.uk)
  • The classical example of such a loss of protecting genes is hereditary retinoblastoma, in which one parent's contribution of the tumor suppressor Rb1 is flawed. (wikipedia.org)
  • Whereas targeting of activated oncogenes has proved clinically useful, few current therapies exploit loss-of-function mutations in tumor suppressor genes or in the genome at large. (avhandlingar.se)
  • A significant yet limited set of metabolic genes that explained the partial divergence of ccRCC metabolism correlated with loss of von Hippel-Lindau tumor suppressor ( VHL ) and a potential activation of signal transducer and activator of transcription 1. (pnas.org)
  • Notably, this behavior is recapitulated by recurrent loss of heterozygosity in multiple metabolic genes adjacent to VHL . (pnas.org)
  • Loss of heterozygosity and methylation of multiple tumor suppressor genes on chromosome 3 in hepatocellular carcinoma. (nih.gov)
  • A total of 48 paired HCCs and noncancerous tissues were used to detect loss of heterozygosity (LOH) and the methylation profiles of five tumor suppressor genes (RASSF1A, BLU, FHIT, CRBP1, and HLTF) on chromosome 3 by using polymerase chain reaction (PCR) and methylation-specific PCR. (nih.gov)
  • The genetic analysis included loss of heterozygosity of several tumor suppressor genes known to be involved in esophagogastric carcinogenesis. (aacrjournals.org)
  • The present study aimed to identify useful predictors of the clinical features and for the prognosis of GC, based on an investigation of MSI and loss of heterozygosity (LOH) in tumor‑related genes. (spandidos-publications.com)
  • To compare the patterns of allelic loss of tumor suppressor genes in SH and BAC by microdissection-based genotypic analysis. (elsevier.com)
  • Adelaide Research & Scholarship: Localisation of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity. (edu.au)
  • Seven cases were informative for both genes, loss of heterozygosity occurred for both genes in five, one retained heterozygosity for both, and one SCLC had loss of heterozygosity for APC but not for MCC. (elsevier.com)
  • Restriction fragment length polymorphism analysis was used as a molecular genetic approach to examine loci on chromosome 6q for loss of constitutional heterozygosity (LOH). (elsevier.com)
  • Millikin, D & Trent, J 1991, ' Loss of Heterozygosity for Loci on the Long Arm of Chromosome 6 in Human Malignant Melanoma ', Cancer Research , vol. 51, no. 20, pp. 5449-5453. (elsevier.com)
  • We examined 14 pheochromocytomas (four from VHL patients, nine from sporadic patients, and one from a patient with familial pheochromocytoma) for loss of heterozygosity on chromosome arm 3p by using the polymerase chain reaction and restriction fragment length polymorphisms at eight loci. (elsevier.com)
  • In 12/14 (86%) instances of chromosome 19 deletion in oligodendrogliomas and MOA, the 19q arm showed LOH, whereas the 19p arm showed no loss for all informative loci. (elsevier.com)
  • Conversely, in 17/23 (74%) instances of chromosome 19 deletion in astrocytomas, the 19p arm showed LOH, whereas the 19q arm showed no loss for one or more loci. (elsevier.com)
  • DNA was analyzed for loss of heterozygosity at BMPR2 and for microsatellite instability (MSI) at 5 loci. (ahajournals.org)
  • Aims -(1) To investigate whether loss of heterozygosity identified at various loci in invasive breast carcinoma or is present in lobular carcinoma in situ (LCIS). (bmj.com)
  • Results -Loss of heterozygosity was detected in both subgroups of LCIS at all the loci examined. (bmj.com)
  • To obtain a broad perspective of the events leading to spontaneous loss of heterozygosity (LOH), we have characterized the genetic alterations that functionally inactivated the URA3 marker hemizygously or heterozygously situated either on chromosome III or chromosome V in diploid Saccharomyces cerevisiae cells. (genetics.org)
  • Analysis of chromosome structure in a large number of LOH clones by pulsed-field gel electrophoresis and PCR showed that chromosome loss, allelic recombination, and chromosome aberration were the major classes of genetic alterations leading to LOH. (genetics.org)
  • Copy number alterations (CNA) and loss of heterozygosity (LOH) represent a large proportion of genetic structural variations of cancer genomes. (biomedcentral.com)
  • Genetic alterations of E-cadherin were tested by polymerase chain reaction (PCR)/loss of heterozygosity (LOH). (mdpi.com)
  • Loss of heterozygosity (LOH) studies were performed to investigate the genetic differences which separate low-grade (LG), high-grade (HG), and borderline epithelial ovarian carcinomas. (elsevier.com)
  • Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex genetic alterations in cervical cancer - Descarga este documento en PDF. (duhnnae.com)
  • A total of 80 primary human breast carcinoma DNAs were analysed for loss of heterozygosity (LOH) on the long arm of chromosome 6, using microsatellite markers whose location has been defined physically and by linkage analysis. (nih.gov)
  • These results have led us to conclude that the loss of sequences from the long arm of chromosome 6 is a nonrandom and possibly biologically relevant event in human malignant melanoma. (elsevier.com)
  • however, its exact role has not been clarified yet, but nearly all germline mutations of LKB1 lead to loss or impairment of the kinase activity of the protein. (bmj.com)
  • We demonstrate the Meselson effect for the first time at the genome-wide level in any organism and show large regions of loss of heterozygosity, which we hypothesise to be a short-term compensatory mechanism for counteracting deleterious mutations. (elifesciences.org)
  • The aCN-LOH, resulting from the apparent duplication of oncogenic mutations coupled with the loss of the normal alleles, has been postulated to be associated with myeloid malignancies [ 15 ]. (biomedcentral.com)
  • The incidence of loss of heterozygosity on 17p (D17S796) is lower than we have observed previously in DCIS, suggesting that LCIS and DCIS are different genetically as well as clinically and morphologically. (bmj.com)
  • The similar incidence of loss of heterozygosity on 16q and 17q, however, suggests that DCIS and LCIS may share a common pathway of evolution. (bmj.com)
  • High incidence of loss of heterozygosity at chromosome 17p13 in breast tumours from BRCA2 mutation carriers. (lsh.is)
  • We present a strategy for detection of loss-of-heterozygosity and allelic imbalance in cancer cells from whole genome single nucleotide polymorphism genotyping data. (biomedcentral.com)
  • Different studies investigated genomic alterations in cervical cancer mainly by means of metaphase comparative genomic hybridization mCGH and microsatellite marker analysis for the detection of loss of heterozygosity LOH. (duhnnae.com)
  • The mechanisms by which hyperactive alleles become homozygous was addressed by comparative genome hybridization and single nucleotide polymorphism arrays and indicated that loss of TAC1 heterozygosity can occur by recombination between portions of chromosome 5 or by chromosome 5 duplication. (genetics.org)
  • Mitotic recombination is responsible for the loss of heterozygosity in cultured murine cell lines. (asm.org)
  • In total, up to 50% of HGSOC have homologous recombination defects related with loss of function of BRCA1 or BRCA2 or other homologous recombination (HR) pathway proteins ( 2 ). (frontiersin.org)
  • Tischfieid, Jay A. / High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination . (elsevier.com)
  • However, we found no correlation between Chr16 LOH, or loss of CTCF mRNA or protein, and methylation of H19(mat). (nih.gov)
  • DNA from 34 tumours was examined for loss of heterozygosity (LOH) at three markers surrounding DBCCR1 and for hypermethylation of the DBCCR1 promoter, using methylation-specific PCR and methylation-specific melting-curve analysis. (ku.dk)
  • Loss of CDX1 expression in colorectal carcinoma: promoter methylation, mutation, and loss of heterozygosity analyses of 37 cell lines. (ox.ac.uk)
  • Loss of heterozygosity in tumor cells has been analyzed using microsatellite markers (2). (scielo.br)
  • Proliferative-Enriched for neural stem cell markers, PTEN loss, EGFR amplified or normal, Akt (protein kinase B) cell signaling pathway activation, shorter survival than proneural subgroup. (mdpi.com)
  • Microdissection-based loss of heterozygosity analysis of 9 cases of SH and 14 cases of BAC, using a panel of 7 polymorphic microsatellite markers located on 1p, 5q, 9p, 10q, and 17p. (elsevier.com)
  • The involvement of STRAD in 42 PJS associated tumours (sporadic lung, colon, gastric, and ovarian adenocarcinomas) was studied using loss of heterozygosity (LOH) analysis of eight microsatellite markers on chromosome 17, including TP53 , BRCA1 , and STRAD markers. (bmj.com)
  • Twenty-three cases of ductal carcinoma in situ (DCIS), ten of which had an associated invasive component, were studied for loss of heterozygosity (LOH) of microsatellite markers on chromosome 9p and the results compared with a panel of 20 invasive breast carcinomas. (openrepository.com)
  • Eight polymorphic markers ordered within this new physical map and one external marker were used to investigate the pattern of loss of heterozygosity in a panel of 40 sporadic breast tumour patients. (elsevier.com)
  • The data revealed a region of high loss (60%) within distal 17p13.3, defined by markers D17S926, D17S695 and D17S849 which mapped close together. (elsevier.com)
  • abstract = "Glioblastoma multiforme (GBM) is the most common and aggressive primary brain tumor and possesses a high incidence of 10p loss. (elsevier.com)
  • This study therefore shows how loss of heterozygosity, hallmarked by VHL deletion in ccRCC, may uniquely shape tumor metabolism. (pnas.org)
  • Loss of whole chromosome 7 or deletion of the long arm are detected in up to 20% of patients with MDS or AML and the highest frequency is noted in MDS and AML arising after cytotoxic therapy (3). (scielo.br)
  • Partial deletion of chromosome 19 occurred more frequently (31/37 cases) than did loss of one whole copy of the chromosome, and a morphology- specific pattern of LOH was observed. (elsevier.com)
  • To test the functional significance of this observation, we have developed an in vitro loss of heterozygosity approach in which a wild-type chromosome 10 was transferred into melanoma cells, where there was selection for its breakage and regional deletion to relieve its growth suppressive effects. (uab.edu)
  • Alterations on chromosome 5, which include interstitial deletions of the long arm or complete loss of the entire chromosome (monosomy 5), are frequently observed in MDS and AML patients (3). (scielo.br)
  • Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia--a comparative study of four differently designed, high resolution microarray platforms. (semanticscholar.org)
  • The single copy cannot be heterozygous at SNP locations and therefore the region shows loss of heterozygosity. (wikipedia.org)
  • The procedure to isolate homozygous [alpha]GT knockout (KO) cells derived from loss of heterozygosity (LOH) in heterozygous KO cells has been developed [11,12]. (thefreelibrary.com)
  • Analysis of 73 unpaired lung carcinoma DNAs showed that out of 31 non-SCLC samples, 19% were heterozygous for the BglI polymorphism and 25% showed heterozygosity with TaqI. (elsevier.com)
  • The frequency of heterozygosity and LOH in the breast cancers (BC) and other cancers (OC) are presented in this table. (biomedcentral.com)
  • Loss of LKB1 has been studied in a variety of sporadic tumours, but so far few losses have been described except for lung adenocarcinomas, where approximately one third of the patients shows inactivation of LKB1 , 7 and to a lesser extent in pancreatic (4%) and biliary (6%) cancers. (bmj.com)
  • Cowell, JK & Lo, KC 2009, Application of oligonucleotides arrays for coincident comparative genomic hybridization, ploidy status and loss of heterozygosity studies in human cancers . (elsevier.com)
  • Genome changes, such as loss of heterozygosity (LOH) or copy number variations (CNV), result in rapid and dramatic large-effect changes in phenotypic diversity. (g3journal.org)
  • To facilitate analysis of copy number variations, single nucleotide polymorphisms and loss of heterozygosity events in these pathogens, we developed a pipeline for analyzing diverse genome-scale datasets from microarray, deep sequencing, and restriction site associated DNA sequence experiments for clinical and laboratory strains of Candida albicans , the most prevalent human fungal pathogen. (beds.ac.uk)
  • Using detailed allelotype analysis on a range of lympho-haematopoietic tumour types arising in F1 hybrid mice, we now show a consistent pattern of loss of heterozygosity (LOH) which identifies a common region of loss delineated by microsatellites D4Mit21 and D4Mit53 on proximal chromosome 4. (semanticscholar.org)
  • Ductal carcinoma in situ of the breast with different histopathological grades and corresponding new breast tumour events: analysis of loss of heterozygosity. (openrepository.com)
  • Loss of heterozygosity analysis did not reveal significant differences between esophageal adenocarcinoma and cardiac adenocarcinoma. (aacrjournals.org)
  • Using the array and analysis tools, we constructed a haplotype map (hapmap) of strain SC5314 to assign SNP alleles to specific homologs, and we used it to follow the acquisition of loss of heterozygosity (LOH) and copy number changes in a series of derived laboratory strains. (g3journal.org)
  • Analysis of loss of heterozygosity in lymphoma and leukaemia arising in F1 hybrid mice locates a common region of chromosome 4 loss. (semanticscholar.org)
  • Therefore, by combining LOH and copy number analysis, regions of LOH derived from either copy number loss or neutral events may be identified. (biomedcentral.com)
  • Analysis of loss of heterozygosity on chromosome 11q13 in atyp. (mysciencework.com)
  • Analysis of loss of heterozygosity on chromosome 11q13 in atypical ductal hyperplasia and in situ carcinoma of the breast. (mysciencework.com)
  • Chimenti, S. / Analysis of microsatellite instability and loss of heterozygosity in keratoacanthoma . (unicatt.it)
  • Comparative analysis of loss of heterozygosity and expression profile in normal tissue, DCIS and invasive breast cancer. (openrepository.com)
  • Western blotting and PCR analyses showed loss of Lkb1 heterozygosity in all of the HCC tissues examined, indicating a tumor suppressor role of LKB1 in the mouse liver. (aacrjournals.org)
  • In 20 cases (27%) the loss of at least one marker was found. (nel.edu)
  • Genomic instability is important for cancer development and can manifest as copy number (CN) gain or loss as well as loss of heterozygosity (LOH). (biomedcentral.com)
  • A) Biological basis and consequences of genomic loss of the patient-specific HLA haplotype after transplantation. (omixon.com)
  • The aim of this study was to examine the association of non-random X chromosome inactivation (XCI) and loss of heterozygosity (LOH) at Xq25 with breast cancer development. (biomedcentral.com)
  • We conclude that loss of heterozygosity occurs frequently for A/CC and APC in lung cancer of all histological types and is very frequent in SCLC. (elsevier.com)
  • Numerous cytogenetic and molecular studies of breast cancer have identified frequent loss of heterozygosity (LOH) of the long arm of human chromosome 16. (sahmriresearch.org)
  • RESULTS--Loss of heterozygosity (LOH) was detected in five of nine informative cases on chromosome 16q at the microsatellite D16S413 and two of eight informative cases on chromosome 17p at D17S796. (bmj.com)
  • a. informative: patients with heterozygosity. (biomedcentral.com)
  • Hofler, H. / Microsatellite instability and loss of heterozygosity in melanoma . (elsevier.com)
  • Loss of heterozygosity due to loss of one parental copy in a region is also called hemizygosity in that region. (wikipedia.org)
  • Although most cells will have a functional second copy, chance loss of heterozygosity events in individual cells almost invariably lead to the development of this retinal cancer in the young child. (wikipedia.org)
  • It was not uncommon to observe copy number gains that were associated with loss of heterozygosity as well as copy number losses that were not. (elsevier.com)
  • The only arrays currently available that simultaneously report copy number, ploidy, and loss of heterozygosity are the Affymetrix SNP mapping arrays. (elsevier.com)
  • From our experience using these arrays, we provide insights into how to evaluate the SNP data to report copy number changes, loss of heterozygosity, and ploidy in the same tumor samples using a single array. (elsevier.com)
  • Loss of heterozygosity does not imply a homozygous state (which would require the presence of two identical alleles in the cell). (wikipedia.org)
  • CDH16 was localized to 8q22.1, a region exhibiting loss of heterozygosity in adult acute myeloid leukemia. (edu.au)
  • They show that in the pathogenic yeast Candida albicans , loss of heterozygosity (LOH) is also induced by stress. (pubmedcentralcanada.ca)
  • Results: Loss of heterozygosity of PTEN was observed in 17.1% of patients (13/76) diagnosed with gastric cancer. (elsevier.com)
  • Allelic loss on chromosome band 18p11.3 occurs early and reveals heterogeneity in breast cancer progression. (openrepository.com)
  • There was no significant difference in the frequency of the loss between the group associated with invasive carcinoma and the pure LCIS group. (bmj.com)
  • The frequency of loss of heterozygosity ranged from 8% on 17p to 50% on 17q. (bmj.com)
  • 16q24) to investigate the mechanisms of loss of heterozygosity (LOH) in normal human somatic cells in vivo. (elsevier.com)
  • Multiple regions of chromosome 6q affected by loss of heterozygosity in primary human breast carcinomas. (nih.gov)
  • Identical allelic loss in invasive and adjacent in situ ductal breast carcinoma (DCIS) on chromosome 11q13 has been previously reported, providing molecular evidence for the progression of DCIS to invasive tumor. (mysciencework.com)
  • In this study we analyzed loss of heterozygosity (LOH) on 11q13 (PYGM, INT-2) in atypical ductal hyperplasia (ADH) and various histological types of in situ carcinomas of the breast in patients without invasive cancer. (mysciencework.com)
  • Loss of heterozygosity at chromosome 9p in ductal carcinoma in situ and invasive carcinoma of the breast. (openrepository.com)
  • Loss of heterozygosity and microsatellite instability in ductal carcinoma in situ of the breast. (openrepository.com)