Gene deletion. Medical search

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.

Deletion of sequences of nucleic acids from the genetic material of an individual.

Actual loss of portion of a chromosome.

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.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

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.

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.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

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.

Recombinases that insert exogenous DNA into the host genome. Examples include proteins encoded by the POL GENE of RETROVIRIDAE and also by temperate BACTERIOPHAGES, the best known being BACTERIOPHAGE LAMBDA.

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.

An individual in which both alleles at a given locus are identical.

The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.

Biochemical identification of mutational changes in a nucleotide sequence.

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.

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.

Any method used for determining the location of and relative distances between genes on a chromosome.

Techniques to alter a gene sequence that result in an inactivated gene, or one in which the expression can be inactivated at a chosen time during development to study the loss of function of a gene.

An individual having different alleles at one or more loci regarding a specific character.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

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.

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

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 test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.

Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.

Those genes found in an organism which are necessary for its viability and normal function.

The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.

Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.

The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.

The functional hereditary units of FUNGI.

Proteins found in any species of bacterium.

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 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).

DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.

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.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in fungi.

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.

A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.

Established cell cultures that have the potential to propagate indefinitely.

The complete gene complement contained in a set of chromosomes in a fungus.

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.

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.

A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.

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 characteristic symptom complex.

A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.

A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA.

Processes occurring in various organisms by which new genes are copied. Gene duplication may result in a MULTIGENE FAMILY; supergenes or PSEUDOGENES.

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.

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc.

The functional hereditary units of BACTERIA.

A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.

A specific pair of GROUP C CHROMSOMES of the human chromosome classification.

Proteins found in any species of fungus.

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

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 heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.

The degree of pathogenicity within a group or species of microorganisms or viruses as indicated by case fatality rates and/or the ability of the organism to invade the tissues of the host. The pathogenic capacity of an organism is determined by its VIRULENCE FACTORS.

Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.

A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.

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 transferase that catalyzes the addition of aliphatic, aromatic, or heterocyclic FREE RADICALS as well as EPOXIDES and arene oxides to GLUTATHIONE. Addition takes place at the SULFUR. It also catalyzes the reduction of polyol nitrate by glutathione to polyol and nitrite.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.

Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.

A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.

The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.

An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).

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.

Methods and techniques used to genetically modify cells' biosynthetic product output and develop conditions for growing the cells as BIOREACTORS.

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.

The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.

Removal, via CELL DEATH, of immature lymphocytes that interact with antigens during maturation. For T-lymphocytes this occurs in the thymus and ensures that mature T-lymphocytes are self tolerant. B-lymphocytes may also undergo clonal deletion.

Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites.

A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.

Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)

Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.

The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.

Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.

A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.

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.

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.

An inhibitor of apoptosis protein that was initially identified during analysis of CHROMOSOME DELETIONS associated with SPINAL MUSCULAR ATROPHY. Naip contains a nucleotide binding oligomerization domain and a carboxy-terminal LEUCINE rich repeat.

Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.

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.

Transport proteins that carry specific substances in the blood or across cell membranes.

DNA molecules capable of autonomous replication within a host cell and into which other DNA sequences can be inserted and thus amplified. Many are derived from PLASMIDS; BACTERIOPHAGES; or VIRUSES. They are used for transporting foreign genes into recipient cells. Genetic vectors possess a functional replicator site and contain GENETIC MARKERS to facilitate their selective recognition.

Mapping of the KARYOTYPE of a cell.

A subdiscipline of genetics which deals with the genetic mechanisms and processes of microorganisms.

Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.

The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.

Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.

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.

The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.

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 group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.

Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.

A species of halophilic archaea found in the Dead Sea.

An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.

Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.

Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).

A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.

The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.

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.

A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.

Identification of genetic carriers for a given trait.

Proteins found in any species of virus.

Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.

A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

Mice bearing mutant genes which are phenotypically expressed in the animals.

Congenital absence of or defects in structures of the eye; may also be hereditary.

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 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.

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.

The parts of a macromolecule that directly participate in its specific combination with another molecule.

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.

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.

The functional hereditary units of VIRUSES.

An INK4 cyclin-dependent kinase inhibitor containing four ANKYRIN-LIKE REPEATS. INK4B is often inactivated by deletions, mutations, or hypermethylation in HEMATOLOGIC NEOPLASMS.

A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.

Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.

A sequence of successive nucleotide triplets that are read as CODONS specifying AMINO ACIDS and begin with an INITIATOR CODON and end with a stop codon (CODON, TERMINATOR).

The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.

Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.

An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.

Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.

The genetic complement of a BACTERIA as represented in its DNA.

Histochemical localization of immunoreactive substances using labeled antibodies as reagents.

Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease.

Deoxyribonucleic acid that makes up the genetic material of fungi.

The sequential location of genes on a chromosome.

The entity of a developing mammal (MAMMALS), generally from the cleavage of a ZYGOTE to the end of embryonic differentiation of basic structures. For the human embryo, this represents the first two months of intrauterine development preceding the stages of the FETUS.

The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.

A relatively rare, usually benign neoplasm originating in the chemoreceptor tissue of the CAROTID BODY; GLOMUS JUGULARE; GLOMUS TYMPANICUM; AORTIC BODIES; and the female genital tract. It consists histologically of rounded or ovoid hyperchromatic cells that tend to be grouped in an alveolus-like pattern within a scant to moderate amount of fibrous stroma and a few large thin-walled vascular channels. (From Stedman, 27th ed)

A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.

Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.

The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.

Sets of enzymatic reactions occurring in organisms and that form biochemicals by making new covalent bonds.

Proteins prepared by recombinant DNA technology.

In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.

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.

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.

Elements of limited time intervals, contributing to particular results or situations.

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.

A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.

A species of rod-shaped, LACTIC ACID bacteria used in PROBIOTICS and SILAGE production.

DNA present in neoplastic tissue.

Deoxyribonucleic acid that makes up the genetic material of bacteria.

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.

Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.

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.

Proteins obtained from ESCHERICHIA COLI.

Protein analogs and derivatives of the Aequorea victoria green fluorescent protein that emit light (FLUORESCENCE) when excited with ULTRAVIOLET RAYS. They are used in REPORTER GENES in doing GENETIC TECHNIQUES. Numerous mutants have been made to emit other colors or be sensitive to pH.

The process of intracellular viral multiplication, consisting of the synthesis of PROTEINS; NUCLEIC ACIDS; and sometimes LIPIDS, and their assembly into a new infectious particle.

Genotypic differences observed among individuals in a population.

A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.

The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.

DNA constructs that are composed of, at least, a REPLICATION ORIGIN, for successful replication, propagation to and maintenance as an extra chromosome in bacteria. In addition, they can carry large amounts (about 200 kilobases) of other sequence for a variety of bioengineering purposes.

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.

Enzymes that catalyze reversibly the formation of an epoxide or arene oxide from a glycol or aromatic diol, respectively.

A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.

A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.

An enzyme that catalyzes the formation of glycerol 3-phosphate from ATP and glycerol. Dihydroxyacetone and L-glyceraldehyde can also act as acceptors; UTP and, in the case of the yeast enzyme, ITP and GTP can act as donors. It provides a way for glycerol derived from fats or glycerides to enter the glycolytic pathway. EC 2.7.1.30.

Structures within the nucleus of bacterial cells consisting of or containing DNA, which carry genetic information essential to the cell.

Genes whose expression is easily detectable and therefore used to study promoter activity at many positions in a target genome. In recombinant DNA technology, these genes may be attached to a promoter region of interest.

Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The systems recognize specific short DNA sequences and cleave either within, or at a short specific distance from, the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. EC 3.1.21.4.

The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.

The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.

A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.

A glycoprotein that is important in the activation of CLASSICAL COMPLEMENT PATHWAY. C4 is cleaved by the activated COMPLEMENT C1S into COMPLEMENT C4A and COMPLEMENT C4B.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

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).

A deficiency of blood coagulation factor IX inherited as an X-linked disorder. (Also known as Christmas Disease, after the first patient studied in detail, not the holy day.) Historical and clinical features resemble those in classic hemophilia (HEMOPHILIA A), but patients present with fewer symptoms. Severity of bleeding is usually similar in members of a single family. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. Treatment is similar to that for hemophilia A. (From Cecil Textbook of Medicine, 19th ed, p1008)

One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.

Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.

The relationships of groups of organisms as reflected by their genetic makeup.

A species of gram-positive, asporogenous, non-pathogenic, soil bacteria that produces GLUTAMIC ACID.

Proteins that bind to RNA molecules. Included here are RIBONUCLEOPROTEINS and other proteins whose function is to bind specifically to RNA.

A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.

Deoxyribonucleic acid that makes up the genetic material of viruses.

Genes that are introduced into an organism using GENE TRANSFER TECHNIQUES.

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 group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)

Reproductive bodies produced by fungi.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in enzyme synthesis.

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.

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.

The role of RBF in the introduction of G1 regulation during Drosophila embryogenesis. (1/19725)

The first appearance of G1 during Drosophila embryogenesis, at cell cycle 17, is accompanied by the down-regulation of E2F-dependent transcription. Mutant alleles of rbf were generated and analyzed to determine the role of RBF in this process. Embryos lacking both maternal and zygotic RBF products show constitutive expression of PCNA and RNR2, two E2F-regulated genes, indicating that RBF is required for their transcriptional repression. Despite the ubiquitous expression of E2F target genes, most epidermal cells enter G1 normally. Rather than pausing in G1 until the appropriate time for cell cycle progression, many of these cells enter an ectopic S-phase. These results indicate that the repression of E2F target genes by RBF is necessary for the maintenance but not the initiation of a G1 phase. The phenotype of RBF-deficient embryos suggests that rbf has a function that is complementary to the roles of dacapo and fizzy-related in the introduction of G1 during Drosophila embryogenesis. (+info)

Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (2/19725)

The analysis of a number of cases of beta-globin thalassemia and hereditary persistence of fetal hemoglobin (HPFH) due to large deletions in the beta-globin locus has led to the identification of several DNA elements that have been implicated in the switch from human fetal gamma- to adult beta-globin gene expression. We have tested this hypothesis for an element that covers the minimal distance between the thalassemia and HPFH deletions and is thought to be responsible for the difference between a deletion HPFH and deltabeta-thalassemia, located 5' of the delta-globin gene. This element has been deleted from a yeast artificial chromosome (YAC) containing the complete human beta-globin locus. Analysis of this modified YAC in transgenic mice shows that early embryonic expression is unaffected, but in the fetal liver it is subject to position effects. In addition, the efficiency of transcription of the beta-globin gene is decreased, but the developmental silencing of the gamma-globin genes is unaffected by the deletion. These results show that the deleted element is involved in the activation of the beta-globin gene perhaps through the loss of a structural function required for gene activation by long-range interactions. (+info)

Deletion of multiple immediate-early genes from herpes simplex virus reduces cytotoxicity and permits long-term gene expression in neurons. (3/19725)

Herpes simplex virus type 1 (HSV-1) has many attractive features that suggest its utility for gene transfer to neurons. However, viral cytotoxicity and transient transgene expression limit practical applications even in the absence of viral replication. Mutant viruses deleted for the immediate early (IE) gene, ICP4, an essential transcriptional transactivator, are toxic to many cell types in culture in which only the remaining IE genes are expressed. In order to test directly the toxicity of other IE gene products in neurons and develop a mutant background capable of longterm transgene expression, we generated mutants deleted for multiple IE genes in various combinations and tested their relative cytotoxicity in 9L rat gliosarcoma cells, Vero monkey kidney cells, and primary rat cortical and dorsal root neurons in culture. Viral mutants deleted simultaneously for the IE genes encoding ICP4, ICP22 and ICP27 showed substantially reduced cytotoxicity compared with viruses deleted for ICP4 alone or ICP4 in combination with either ICP22, ICP27 or ICP47. Infection of neurons in culture with these triple IE deletion mutants substantially enhanced cell survival and permitted transgene expression for over 21 days. Such mutants may prove useful for efficient gene transfer and extended transgene expression in neurons in vitro and in vivo. (+info)

Downregulation of metallothionein-IIA expression occurs at immortalization. (4/19725)

Metallothioneins (MTs) may modulate a variety of cellular processes by regulating the activity of zinc-binding proteins. These proteins have been implicated in cell growth regulation, and their expression is abnormal in some tumors. In particular, MT-IIA is expressed 27-fold less in human colorectal tumors and tumor cell lines compared with normal tissue (Zhang et al., 1997). Here we demonstrate that MT-IIA downregulation occurs when human cells become immortal, a key event in tumorigenesis. After immortalization MT-IIA expression remains inducible but the basal activity of the MT-IIA promoter is decreased. MT-IIA downregulation at immortalization is one of the most common immortalization-related changes identified to date, suggesting that MT-IIA has a role in this process. (+info)

p73 at chromosome 1p36.3 is lost in advanced stage neuroblastoma but its mutation is infrequent. (5/19725)

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)

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. (6/19725)

Microdeletions of chromosome 22q11 are the most common genetic defects associated with cardiac and craniofacial anomalies in humans. A screen for mouse genes dependent on dHAND, a transcription factor implicated in neural crest development, identified Ufd1, which maps to human 22q11 and encodes a protein involved in degradation of ubiquitinated proteins. Mouse Ufd1 was specifically expressed in most tissues affected in patients with 22q11 deletion syndrome. The human UFD1L gene was deleted in all 182 patients studied with 22q11 deletion, and a smaller deletion of approximately 20 kilobases that removed exons 1 to 3 of UFD1L was found in one individual with features typical of 22q11 deletion syndrome. These data suggest that UFD1L haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11 deletion. (+info)

Pyrin/marenostrin mutations in familial Mediterranean fever. (7/19725)

Familial Mediterranean fever (FMF) is an inherited inflammatory disease that is frequently complicated by reactive systemic (AA) amyloidosis. It is principally recognized in certain Mediterranean populations, and the diagnosis depends on clinical features. Four mutations strongly linked to FMF have lately been identified in a gene encoding a novel protein that has been named pyrin or marenostrin. We studied 27 consecutive patients of varied ethnic origin, including an English man, who had classical, probable or possible FMF. Pyrin/marenostrin genotypes were determined, and AA amyloidosis was sought using serum amyloid P component scintigraphy. Among the 23 patients with classical or probable FMF, 17 were homozygotes or compound heterozygotes for pyrin/marenostrin mutations, and in five, only single allele mutations were identified. Two new mutations, T6811 and delta M694, were discovered in addition to the four described previously. No mutations were identified in three of the four patients with possible FMF. Nine patients had AA amyloidosis, but this association was not restricted to any particular genotype. Most patients with FMF have mutations in both pyrin/marenostrin alleles, and genotyping at this locus is a valuable diagnostic test. Unidentified second mutations are likely to occur in FMF patients who have apparently solitary mutations, and therefore genotype results must be interpreted in conjunction with the clinical picture. (+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. (8/19725)

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)

Some common effects of chromosomal deletions include:

1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.

Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

Delta-Thalassemia is classified into two main types: delta-plus-thalassemia and delta-beta-thalassemia. Delta-plus-thalassemia is the more severe form of the disorder and is characterized by a complete absence of delta-globin chain production, resulting in severe anemia and often death before the age of two. Delta-beta-thalassemia is a milder form of the disorder and is characterized by reduced production of delta-globin chains, which can lead to mild anemia or no anemia at all.

Delta-Thalassemia is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated HBB gene (one from each parent) to develop the disorder. Carriers of the disorder, who have one normal copy of the HBB gene and one mutated copy, are generally asymptomatic but can pass the mutated gene to their children.

There is currently no cure for delta-Thalassemia, but treatment options include blood transfusions, folic acid supplements, and bone marrow transplantation. The prognosis for patients with delta-Thalassemia depends on the severity of the disorder and can vary from mild to severe.

Some examples of multiple abnormalities include:

1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.

The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.

There are various causes of intellectual disability, including:

1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.

Intellectual disability can result in a range of cognitive and functional impairments, including:

1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.

There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:

1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.

It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.

There are several types of muscular dystrophies, including:

1. Duchenne muscular dystrophy (DMD): This is the most common form of muscular dystrophy, affecting males primarily. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, wheelchair dependence, and shortened lifespan.
2. Becker muscular dystrophy (BMD): This is a less severe form of muscular dystrophy than DMD, affecting both males and females. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, but with a milder course than DMD.
3. Limb-girdle muscular dystrophy (LGMD): This is a group of disorders that affect the muscles around the shoulders and hips, leading to progressive weakness and degeneration. There are several subtypes of LGMD, each with different symptoms and courses.
4. Facioscapulohumeral muscular dystrophy (FSHD): This is a rare form of muscular dystrophy that affects the muscles of the face, shoulder, and upper arm. It is caused by a mutation in the D4Z4 repeat on chromosome 4.
5. Myotonic dystrophy: This is the most common adult-onset form of muscular dystrophy, affecting both males and females. It is characterized by progressive muscle stiffness, weakness, and wasting, as well as other symptoms such as cataracts, myotonia, and cognitive impairment.

There is currently no cure for muscular dystrophies, but various treatments are available to manage the symptoms and slow the progression of the disease. These include physical therapy, orthotics and assistive devices, medications to manage pain and other symptoms, and in some cases, surgery. Researchers are actively working to develop new treatments and a cure for muscular dystrophies, including gene therapy, stem cell therapy, and small molecule therapies.

It's important to note that muscular dystrophy can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific type of dystrophy. This means that the risk of inheriting the condition depends on the mode of inheritance and the presence of mutations in specific genes.

In summary, muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration. There are several types of muscular dystrophy, each with different symptoms and courses. While there is currently no cure for muscular dystrophy, various treatments are available to manage the symptoms and slow the progression of the disease. Researchers are actively working to develop new treatments and a cure for muscular dystrophy.

1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.

2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.

3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.

4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.

5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.

6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.

7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.

8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.

9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.

10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.

There are several types of chromosome aberrations, including:

1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.

Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.

Chromosome aberrations are associated with a wide range of diseases, including:

1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.

Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.

There are two main types of thalassemia: alpha-thalassemia and beta-thalassemia. Alpha-thalassemia is caused by abnormalities in the production of the alpha-globin chain, which is one of the two chains that make up hemoglobin. Beta-thalassemia is caused by abnormalities in the production of the beta-globin chain.

Thalassemia can cause a range of symptoms, including anemia, fatigue, pale skin, and shortness of breath. In severe cases, it can lead to life-threatening complications such as heart failure, liver failure, and bone deformities. Thalassemia is usually diagnosed through blood tests that measure the levels of hemoglobin and other proteins in the blood.

There is no cure for thalassemia, but treatment can help manage the symptoms and prevent complications. Treatment may include blood transfusions, folic acid supplements, and medications to reduce the severity of anemia. In some cases, bone marrow transplantation may be recommended.

Preventive measures for thalassemia include genetic counseling and testing for individuals who are at risk of inheriting the disorder. Prenatal testing is also available for pregnant women who are carriers of the disorder. In addition, individuals with thalassemia should avoid marriage within their own family or community to reduce the risk of passing on the disorder to their children.

Overall, thalassemia is a serious and inherited blood disorder that can have significant health implications if left untreated. However, with proper treatment and management, individuals with thalassemia can lead fulfilling lives and minimize the risk of complications.

There are two main forms of alpha-Thalassemia:

1. Alpha-thalassemia major (also known as Hemoglobin Bart's hydrops fetalis): This is a severe form of the disorder that can cause severe anemia, enlarged spleen, and death in infancy. It is caused by a complete absence of one or both of the HBA1 or HBA2 genes.
2. Alpha-thalassemia minor (also known as Hemoglobin carrier state): This form of the disorder is milder and may not cause any symptoms at all. It is caused by a partial deletion of one or both of the HBA1 or HBA2 genes.

People with alpha-thalassemia minor may have slightly lower levels of hemoglobin and may be more susceptible to anemia, but they do not typically experience any severe symptoms. Those with alpha-thalassemia major, on the other hand, are at risk for serious complications such as anemia, infections, and organ failure.

There is no cure for alpha-thalassemia, but treatment options include blood transfusions, iron chelation therapy, and management of associated complications. Screening for alpha-thalassemia is recommended for individuals who are carriers of the disorder, as well as for those who have a family history of the condition.

Some common types of eye abnormalities include:

1. Refractive errors: These are errors in the way the eye focuses light, causing blurry vision. Examples include myopia (nearsightedness), hyperopia (farsightedness), astigmatism, and presbyopia (age-related loss of near vision).
2. Amblyopia: This is a condition where the brain favors one eye over the other, causing poor vision in the weaker eye.
3. Cataracts: A cataract is a clouding of the lens in the eye that can cause blurry vision and increase the risk of glaucoma.
4. Glaucoma: This is a group of eye conditions that can damage the optic nerve and lead to vision loss.
5. Macular degeneration: This is a condition where the macula, the part of the retina responsible for central vision, deteriorates, leading to vision loss.
6. Diabetic retinopathy: This is a complication of diabetes that can damage the blood vessels in the retina and lead to vision loss.
7. Retinal detachment: This is a condition where the retina becomes separated from the underlying tissue, leading to vision loss.
8. Corneal abnormalities: These are irregularities in the shape or structure of the cornea, such as keratoconus, that can cause blurry vision.
9. Optic nerve disorders: These are conditions that affect the optic nerve, such as optic neuritis, that can cause vision loss.
10. Traumatic eye injuries: These are injuries to the eye or surrounding tissue that can cause vision loss or other eye abnormalities.

Eye abnormalities can be diagnosed through a comprehensive eye exam, which may include visual acuity tests, refraction tests, and imaging tests such as retinal photography or optical coherence tomography (OCT). Treatment for eye abnormalities depends on the specific condition and may include glasses or contact lenses, medication, surgery, or other therapies.

There are many different types of chromosome disorders, including:

1. Trisomy: This is a condition in which there is an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21.
2. Monosomy: This is a condition in which there is a missing copy of a chromosome.
3. Turner syndrome: This is a condition in which there is only one X chromosome instead of two.
4. Klinefelter syndrome: This is a condition in which there are three X chromosomes instead of the typical two.
5. Chromosomal translocations: These are abnormalities in which a piece of one chromosome breaks off and attaches to another chromosome.
6. Inversions: These are abnormalities in which a segment of a chromosome is reversed end-to-end.
7. Deletions: These are abnormalities in which a portion of a chromosome is missing.
8. Duplications: These are abnormalities in which there is an extra copy of a segment of a chromosome.

Chromosome disorders can have a wide range of effects on the body, depending on the type and severity of the condition. Some common features of chromosome disorders include developmental delays, intellectual disability, growth problems, and physical abnormalities such as heart defects or facial anomalies.

There is no cure for chromosome disorders, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with these conditions. Treatment may include medications, therapies, and surgery, as well as support and resources for families and caregivers.

Preventive measures for chromosome disorders are not currently available, but research is ongoing to understand the causes of these conditions and to develop new treatments and interventions. Early detection and diagnosis can help identify chromosome disorders and provide appropriate support and resources for individuals and families.

In conclusion, chromosome disorders are a group of genetic conditions that affect the structure or number of chromosomes in an individual's cells. These conditions can have a wide range of effects on the body, and there is no cure, but treatment and support are available to help manage symptoms and improve quality of life. Early detection and diagnosis are important for identifying chromosome disorders and providing appropriate support and resources for individuals and families.

The symptoms of 22q11 Deletion Syndrome can vary in severity and may include:

* Heart defects, such as Tetralogy of Fallot or Pulmonary atresia
* Craniofacial abnormalities, such as a small head, narrow eyes, and a flat nose bridge
* Developmental delays and learning disabilities
* Speech and language difficulties
* Behavioral and psychiatric issues, such as anxiety and depression
* Other physical anomalies, such as hearing loss or vision problems

22q11 Deletion Syndrome is usually diagnosed through chromosomal microarray analysis (CMA) or fluorescence in situ hybridization (FISH). Treatment for the syndrome typically involves a multidisciplinary approach, including management of heart defects, speech and language therapy, and behavioral interventions. With appropriate support and care, individuals with 22q11 Deletion Syndrome can lead fulfilling lives.

Some of the key features that distinguish 22q11 Deletion Syndrome from other genetic disorders include:

* The specific location of the deletion on chromosome 22q11
* The range of congenital anomalies and developmental delays present in affected individuals
* The potential for complex behavioral and psychiatric issues

Understanding the definition of 22q11 Deletion Syndrome is important for healthcare professionals, as it can help inform diagnosis and treatment decisions for individuals with this condition. Additionally, awareness of this syndrome can help families and caregivers better understand and support affected individuals.

Physical Features:

* Delayed growth and short stature
* Broad forehead
* Long, narrow face with a wide mouth and full lips
* Wide-set eyes that are often blue or green
* Low-set ears
* Curly or wavy hair

Developmental Features:

* Intellectual disability or cognitive impairment
* Delayed speech and language development
* Difficulty with fine motor skills and hand-eye coordination
* Poor musical ability

Personality Profile:

* Friendly and outgoing personality
* High level of empathy and compassion for others
* Excellent social skills
* Love of music and dance
* Curiosity and playfulness

Causes and Inheritance:

Williams syndrome is caused by a deletion of genetic material from chromosome 7, specifically the q11.23 region. This deletion occurs spontaneously, without a known family history or environmental trigger. The disorder is not inherited in a Mendelian pattern, meaning that it does not follow traditional patterns of inheritance.

Diagnosis:

Williams syndrome can be diagnosed through a combination of physical and developmental assessments, as well as genetic testing. Physical features such as broad foreheads and wide mouths are often present at birth, while developmental delays and cognitive impairments may not become apparent until later in childhood. Genetic testing can confirm the diagnosis by identifying the deletion of genetic material on chromosome 7.

Treatment and Management:

There is no cure for Williams syndrome, but early intervention and specialized management can help individuals with the disorder reach their full potential. Treatment may include:

* Physical therapy to improve fine motor skills and coordination
* Speech and language therapy to improve communication skills
* Occupational therapy to develop daily living skills
* Special education programs tailored to individual needs
* Medications to manage cardiovascular problems, hypertension, and sleep disorders

Prognosis:

The prognosis for individuals with Williams syndrome varies depending on the severity of the symptoms. Some individuals may experience significant developmental delays and cognitive impairments, while others may have fewer or no symptoms. With early intervention and specialized management, many individuals with Williams syndrome can lead fulfilling lives and achieve their full potential.

Inheritance Pattern:

Williams syndrome is not inherited in a Mendelian pattern, meaning that it does not follow traditional patterns of inheritance. The disorder is caused by a spontaneous deletion of genetic material on chromosome 7, and there is no known family history or environmental trigger. Each child of an individual with Williams syndrome has a 50% chance of inheriting the deletion and developing the disorder.

Prenatal Testing:

Prenatal testing for Williams syndrome is available but not routine. The test is typically offered to pregnant women who have a family history of the disorder or who have had a previous child with Williams syndrome. Prenatal testing involves analyzing cells from the developing fetus, usually through chorionic villus sampling (CVS) or amniocentesis.

Genetic Counseling:

Genetic counseling is essential for individuals and families affected by Williams syndrome. A genetic counselor can provide information on the inheritance pattern of the disorder, discuss prenatal testing options, and offer guidance on managing the condition. Genetic counseling can also help families understand the risks and benefits of genetic testing and make informed decisions about their reproductive options.

In conclusion, Williams syndrome is a rare genetic disorder that affects approximately 1 in 10,000 individuals worldwide. It is caused by a spontaneous deletion of genetic material on chromosome 7 and is characterized by developmental delays, cognitive impairments, and cardiovascular problems. Early intervention and specialized management can significantly improve the prognosis for individuals with Williams syndrome. Prenatal testing and genetic counseling are available for families who have a risk of inheriting the disorder. With proper care and support, individuals with Williams syndrome can lead fulfilling lives and achieve their full potential.

The symptoms of DMD typically become apparent in early childhood and progress rapidly. They include:

* Delayed motor development
* Weakness and wasting of muscles, particularly in the legs and pelvis
* Muscle weakness that worsens over time
* Loss of muscle mass and fatigue
* Difficulty walking, running, or standing
* Heart problems, such as cardiomyopathy and arrhythmias
* Respiratory difficulties, such as breathing problems and pneumonia

DMD is diagnosed through a combination of clinical evaluation, muscle biopsy, and genetic testing. Treatment options are limited and focus on managing symptoms and improving quality of life. These may include:

* Physical therapy to maintain muscle strength and function
* Medications to manage pain, spasms, and other symptoms
* Assistive devices, such as braces and wheelchairs, to improve mobility and independence
* Respiratory support, such as ventilation assistance, to manage breathing difficulties

The progression of DMD is highly variable, with some individuals experiencing a more rapid decline in muscle function than others. The average life expectancy for individuals with DMD is approximately 25-30 years, although some may live into their 40s or 50s with appropriate medical care and support.

Duchenne muscular dystrophy is a devastating and debilitating condition that affects thousands of individuals worldwide. While there is currently no cure for the disorder, ongoing research and advancements in gene therapy and other treatments offer hope for improving the lives of those affected by DMD.

Symptoms of an extra-adrenal paraganglioma may include high blood pressure, palpitations, sweating, headaches, and weight loss. The exact cause of this condition is not known, but genetics may play a role in some cases. Treatment options vary depending on the location and size of the tumor, but they often involve surgery to remove the affected tissue.

The primary symptoms of DiGeorge syndrome include:

1. Cleft palate or other congenital facial abnormalities
2. Heart defects, such as Tetralogy of Fallot
3. Developmental delays and learning disabilities
4. Speech difficulties
5. Hearing loss
6. Vision problems
7. Immune system dysfunction
8. Thyroid gland abnormalities
9. Kidney and urinary tract defects
10. Increased risk of infections

DiGeorge syndrome is caused by a genetic mutation that occurs sporadically, meaning it is not inherited from either parent. The condition is usually diagnosed during infancy or early childhood, based on the presence of distinctive physical features and developmental delays. Treatment for DiGeorge syndrome typically involves managing the associated symptoms and developmental delays through a combination of medical interventions, therapies, and special education. With appropriate support and care, individuals with DiGeorge syndrome can lead fulfilling lives, although they may require ongoing medical attention throughout their lives.

Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.

The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.

Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.

Examples of diseases with a known genetic predisposition:

1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.

Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."

Symptoms of ichthyosis can include:

* Thickened, scaly skin on the arms, legs, back, and chest
* Redness and itching
* Cracking and splitting of the skin
* Increased risk of infection
* Respiratory problems

Treatment for ichthyosis typically involves the use of topical creams and ointments to help soften and hydrate the skin, as well as oral medications to reduce inflammation and itching. In severe cases, phototherapy or systemic corticosteroids may be necessary.

In addition to these medical treatments, there are also several home remedies and lifestyle modifications that can help manage the symptoms of ichthyosis. These include:

* Moisturizing regularly with a fragrance-free moisturizer
* Avoiding harsh soaps and cleansers
* Using lukewarm water when showering or bathing
* Applying cool compresses to the skin to reduce redness and inflammation
* Wearing loose, breathable clothing to avoid irritating the skin
* Protecting the skin from extreme temperatures and environmental stressors.

There are three main forms of ACH:

1. Classic congenital adrenal hyperplasia (CAH): This is the most common form of ACH, accounting for about 90% of cases. It is caused by mutations in the CYP21 gene, which codes for an enzyme that converts cholesterol into cortisol and aldosterone.
2. Non-classic CAH (NCAH): This form of ACH is less common than classic CAH and is caused by mutations in other genes involved in cortisol and aldosterone production.
3. Mineralocorticoid excess (MOE) or glucocorticoid deficiency (GD): These are rare forms of ACH that are characterized by excessive production of mineralocorticoids (such as aldosterone) or a deficiency of glucocorticoids (such as cortisol).

The symptoms of ACH can vary depending on the specific form of the disorder and the age at which it is diagnosed. In classic CAH, symptoms typically appear in infancy and may include:

* Premature puberty (in girls) or delayed puberty (in boys)
* Abnormal growth patterns
* Distended abdomen
* Fatigue
* Weight gain or obesity
* Easy bruising or bleeding

In NCAH and MOE/GD, symptoms may be less severe or may not appear until later in childhood or adulthood. They may include:

* High blood pressure
* Low blood sugar (hypoglycemia)
* Weight gain or obesity
* Fatigue
* Mood changes

If left untreated, ACH can lead to serious complications, including:

* Adrenal gland insufficiency
* Heart problems
* Bone health problems
* Increased risk of infections
* Mental health issues (such as depression or anxiety)

Treatment for ACH typically involves hormone replacement therapy to restore the balance of hormones in the body. This may involve taking medications such as cortisol, aldosterone, or other hormones to replace those that are deficient or imbalanced. In some cases, surgery may be necessary to remove an adrenal tumor or to correct physical abnormalities.

With proper treatment, many individuals with ACH can lead healthy, active lives. However, it is important for individuals with ACH to work closely with their healthcare providers to manage their condition and prevent complications. This may involve regular check-ups, hormone level monitoring, and lifestyle changes such as a healthy diet and regular exercise.

https://www.medicinenet.com › Medical Dictionary › G

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Definition & Facts | Britannica
https://www.britannica.com › science › Genetic-tr...

Genetic translocation, also called chromosomal translocation, a type of chromosomal aberration in which a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material. Genetic translocations are often found in cancer cells and may play a role in the development and progression of cancer.

Translocation, Genetic | health Encyclopedia - UPMC
https://www.upmc.com › health-library › gene...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Genetics Home Reference - NIH
https://ghr.nlm.nih.gov › condition › ge...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

In conclusion, Genetic Translocation is an abnormality in the number or arrangement of chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome, resulting in a gain or loss of genetic material that can have significant effects on the individual.

Symptoms of hemophilia B can include prolonged bleeding after an injury or surgery, easy bruising, and frequent nosebleeds. Treatment typically involves infusing the patient with factor IX to replace the deficient protein and promote blood clotting. Regular injections of factor IX may be necessary to prevent bleeding episodes.

Hemophilia B is relatively rare, affecting approximately 1 in 25,000 males in the United States. It can be diagnosed through a series of blood tests that measure the levels of factor IX and other clotting factors in the blood. Preventative measures such as avoiding contact sports and receiving regular infusions of factor IX can help manage the condition and prevent complications.

In severe cases, hemophilia B can lead to joint damage, internal bleeding, and even death if left untreated. However, with proper medical care and management, most people with hemophilia B can lead active and relatively normal lives.

There are different types of SMA, ranging from mild to severe, with varying degrees of muscle wasting and weakness. The condition typically becomes apparent during infancy or childhood and can progress rapidly or slowly over time. Symptoms may include muscle weakness, spinal curvature (scoliosis), respiratory problems, and difficulty swallowing.

SMA is caused by a defect in the Survival Motor Neuron 1 (SMN1) gene, which is responsible for producing a protein that protects motor neurons from degeneration. The disorder is usually inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the defective gene - one from each parent - to develop the condition.

There is currently no cure for SMA, but various treatments are available to manage its symptoms and slow its progression. These may include physical therapy, occupational therapy, bracing, and medications to improve muscle strength and function. In some cases, stem cell therapy or gene therapy may be considered as potential treatment options.

Prognosis for SMA varies depending on the type and severity of the condition, but it is generally poor for those with the most severe forms of the disorder. However, with appropriate management and support, many individuals with SMA can lead fulfilling lives and achieve their goals despite physical limitations.

The symptoms of ASF are varied and can include:

* High fever
* Loss of appetite
* Vomiting
* Diarrhea
* Weakness and lethargy
* Reduced productivity and milk production in breeding pigs
* Hemorrhages and skin lesions, which can be severe and fatal.

ASF is transmitted through direct contact with infected animals or contaminated objects, such as meat products, animal feed, or farming equipment. The virus can also be spread by flies, ticks, and other insects that have fed on infected pigs.

There is no specific treatment for ASF, and control measures are largely focused on preventing the spread of the disease. These include:

* Implementing strict biosecurity measures, such as isolating infected animals, disinfecting equipment and facilities, and using protective clothing and gear.
* Vaccination of pigs, which can help reduce the severity of symptoms and prevent the spread of the disease.
* Culling of infected animals to prevent the spread of the disease and minimize economic losses.
* Implementing trade restrictions and surveillance programs to prevent the spread of ASF to other countries.

ASF has significant economic and social impacts on affected communities, particularly in Africa where it is a major threat to food security and livelihoods. The disease has also had significant impacts on global pork supplies, leading to increased prices and trade restrictions.

Male infertility can be caused by a variety of factors, including:

1. Low sperm count or poor sperm quality: This is one of the most common causes of male infertility. Sperm count is typically considered low if less than 15 million sperm are present in a sample of semen. Additionally, sperm must be of good quality to fertilize an egg successfully.
2. Varicocele: This is a swelling of the veins in the scrotum that can affect sperm production and quality.
3. Erectile dysfunction: Difficulty achieving or maintaining an erection can make it difficult to conceive.
4. Premature ejaculation: This can make it difficult for the sperm to reach the egg during sexual intercourse.
5. Blockages or obstructions: Blockages in the reproductive tract, such as a blockage of the epididymis or vas deferens, can prevent sperm from leaving the body during ejaculation.
6. Retrograde ejaculation: This is a condition in which semen is released into the bladder instead of being expelled through the penis during ejaculation.
7. Hormonal imbalances: Imbalances in hormones such as testosterone and inhibin can affect sperm production and quality.
8. Medical conditions: Certain medical conditions, such as diabetes, hypogonadism, and hyperthyroidism, can affect fertility.
9. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and stress can all impact fertility.
10. Age: Male fertility declines with age, especially after the age of 40.

There are several treatment options for male infertility, including:

1. Medications to improve sperm count and quality
2. Surgery to repair blockages or obstructions in the reproductive tract
3. Artificial insemination (IUI) or in vitro fertilization (IVF) to increase the chances of conception
4. Donor sperm
5. Assisted reproductive technology (ART) such as ICSI (intracytoplasmic sperm injection)
6. Hormone therapy to improve fertility
7. Lifestyle changes such as quitting smoking and alcohol, losing weight, and reducing stress.

It's important to note that male infertility is a common condition and there are many treatment options available. If you're experiencing difficulty conceiving, it's important to speak with a healthcare provider to determine the cause of infertility and discuss potential treatment options.

When a chromosome breaks, it can lead to genetic instability and potentially contribute to the development of diseases such as cancer. Chromosome breakage can also result in the loss or gain of genetic material, which can further disrupt normal cellular function and increase the risk of disease.

There are several types of chromosome breakage, including:

1. Chromosomal aberrations: These occur when there is a change in the number or structure of the chromosomes, such as an extra copy of a chromosome (aneuploidy) or a break in a chromosome.
2. Genomic instability: This refers to the presence of errors in the genetic material that can lead to changes in the function of cells and tissues.
3. Chromosomal fragile sites: These are specific regions of the chromosomes that are more prone to breakage than other regions.
4. Telomere shortening: Telomeres are the protective caps at the ends of the chromosomes, and their shortening can lead to chromosome breakage and genetic instability.

Chromosome breakage can be detected through cytogenetic analysis, which involves staining the cells with dyes to visualize the chromosomes and look for any abnormalities. The detection of chromosome breakage can help diagnose certain diseases, such as cancer, and can also provide information about the risk of disease progression.

In summary, chromosome breakage is a type of genetic alteration that can occur as a result of various factors, including exposure to radiation or chemicals, errors during cell division, or aging. It can lead to genetic instability and increase the risk of diseases such as cancer. Detection of chromosome breakage through cytogenetic analysis can help diagnose certain diseases and provide information about the risk of disease progression.

Most persons with 22q11 distal deletions do not have deletion of the SMARCB1 gene.[citation needed] 22q11.2 deletion syndrome ... Very distal deletions including the SMARCB1 gene are associated with an increased risk of malignant rhabdoid tumors. Very ... Most people have an approximately 0.4 to 2.1 Mb deletion (400'000- 2. Millions bases). Although the gene(s) responsible for the ... associated with distal 22q11.2 deletion syndrome but it is advised that people with a deletion that includes the SMARCB1 gene ...

https://en.wikipedia.org/wiki/22q11.2_distal_deletion_syndrome

Deletions smaller than 1 Mb are very rare (about 3%). The remaining 97% of terminal deletions impact about 30 to 190 genes (see ... 2014). "Interstitial 22q13 Deletions Not Involving SHANK3 Gene: A New Contiguous Gene Syndrome". Am J Med Genet A. 164 (7): ... "MAPK8IP2 Gene - GeneCards , JIP2 Protein , JIP2 Antibody". "CHKB Gene - GeneCards , CHKB Protein , CHKB Antibody". "SCO2 Gene ... interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome". Am J Med Genet A. 167 (7): 1679-80. ...

https://en.wikipedia.org/wiki/22q13_deletion_syndrome

Deletions that include the 13q14 band, which contains the tumor suppressor gene Rb, are associated with a higher risk of ... Other genes in the potentially affected region include NUFIP1, HTR2A, PDCH8, and PCDH17. In males with 13q deletion syndrome, ... Deletions that include the 13q32 band, which contains the brain development gene ZIC2, are associated with holoprosencephaly; ... 13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. ...

https://en.wikipedia.org/wiki/13q_deletion_syndrome

Horwitz MS, Laurino MY, Keel SB (August 2019). "ELANE whole gene deletion mutation". Blood Advances. 3 (16): 2470-2473. doi: ... This gene is clustered with other serine protease gene family members, azurocidin 1 and proteinase 3 genes, at chromosome ... The gene encoding neutrophil elastase, ELA2, consists of five exons. Neutrophil elastase is closely related to other cytotoxic ... Mutations in this gene are associated with cyclic neutropenia (CyN) and severe congenital neutropenia (SCN). At least 95 ...

https://en.wikipedia.org/wiki/Neutrophil_elastase

Gene deletion, or gene knockout, is one of the main ways in which the function of genes are discovered. Many of the deletion ... Each strain carries a precise deletion of one of the genes in the genome. This allows researchers to determine what each gene ... formally the Saccharomyces Genome Deletion Project, is a project to create data for a near-complete collection of gene-deletion ... http://www-deletion.stanford.edu/YDPM/YDPM_index.html http://www-sequence.stanford.edu/group/yeast_deletion_project/project_ ...

https://en.wikipedia.org/wiki/Yeast_deletion_project

Targeted gene deletion in Zygosaccharomyces bailii. Yeast 18, 173-186. Kalathenos, P., Sutherland, J. P., Roberts, T. A., 1995 ...

https://en.wikipedia.org/wiki/Zygosaccharomyces_bailii

"Entrez Gene: Chromosome 17p13.1 deletion syndrome". Carvalho CM, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, et al ... Chromosome 17p13.1 deletion syndrome is a protein in humans that is encoded by the DEL17P13.1 gene. "Human PubMed Reference:". ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome, Human proteins, All stub ... at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes". ...

https://en.wikipedia.org/wiki/DEL17P13.1

Δdeleted gene::replacing gene = deletion with replacement (ΔleuA::nptII(KanR) indicates that the leuA gene has been deleted and ... The AMA Manual gives another example: both "the TH gene" and "the TH gene" can validly be parsed as correct ("the gene for ... "HGNC database of human gene names - HUGO Gene Nomenclature Committee". "HGNC Guidelines - HUGO Gene Nomenclature Committee". ... which in some ways is a next step of gene nomenclature, because it aims to unify the representation of gene and gene product ...

https://en.wikipedia.org/wiki/Gene_nomenclature

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic ... Terminal deletion - a deletion that occurs towards the end of a chromosome. Intercalary/interstitial deletion - a deletion that ... Microdeletion - a relatively small amount of deletion (up to 5Mb that could include a dozen genes). Micro-deletion is usually ... In contrast, a deletion that is evenly divisible by three is called an in-frame deletion. Deletions are responsible for an ...

https://en.wikipedia.org/wiki/Deletion_(genetics)

Allanson, JE; Gemmill, RM; Hecht, BK; Johnsen, S; Wenger, DA (1988). "Deletion mapping of the beta-glucuronidase gene". ... The defective gene responsible for Sly syndrome is located on chromosome 7. Most people with Sly disease will have elevated ...

https://en.wikipedia.org/wiki/Sly_syndrome

Koda Y, Soejima M, Yoshioka N, Kimura H (1998). "The haptoglobin-gene deletion responsible for anhaptoglobinemia". American ... Erickson LM, Kim HS, Maeda N (1993). "Junctions between genes in the haptoglobin gene cluster of primates". Genomics. 14 (4): ... Maeda N (1985). "Nucleotide sequence of the haptoglobin and haptoglobin-related gene pair. The haptoglobin-related gene ... The HP gene encodes a preproprotein that is processed to yield both alpha and beta chains, which subsequently combines as a ...

https://en.wikipedia.org/wiki/Haptoglobin

Cells with bbc1 gene deletion are viable. Bbc1 is affinity captured by the Nebulin-family actin filament anchoring protein Cyk3 ... As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through ... "Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse ... Genes on human chromosome 16, All stub articles, Human chromosome 16 gene stubs, Ribosomal proteins). ...

https://en.wikipedia.org/wiki/60S_ribosomal_protein_L13

Chromosome 16p12.2-p11.2 deletion syndrome is a protein that in humans is encoded by the DEL16P12.1P11.2 gene. "Entrez Gene: ... v t e (Articles with short description, Short description matches Wikidata, Genes, Human proteins, All stub articles, Human ...

https://en.wikipedia.org/wiki/DEL16P12.1P11.2

Harris, T. R.; Hammock, B. D. (2013). "Soluble epoxide hydrolase: Gene structure, expression and deletion". Gene. 526 (2): 61- ... doi:10.1016/j.gene.2013.05.008. PMC 3733540. PMID 23701967. Bellien, J; Joannides, R (2013). "Epoxyeicosatrienoic acid pathway ...

https://en.wikipedia.org/wiki/Epoxyeicosatetraenoic_acid

"1 gene lost = 1 limb regained? Scientists demonstrate mammalian regeneration through single gene deletion". Medical Xpress. ... Nakayama K, Hara T, Hibi M, Hirano T, Miyajima A (August 1999). "A novel oncostatin M-inducible gene OIG37 forms a gene family ... Genes on human chromosome 6, CS1: long volume value, Cell cycle regulators, Tumor suppressor genes). ... The Interactive Fly CDKN1A human gene location in the UCSC Genome Browser. CDKN1A human gene details in the UCSC Genome Browser ...

https://en.wikipedia.org/wiki/P21

Wagner FF, Flegel WA (Aug 2000). "RHD gene deletion occurred in the Rhesus box". Blood. 95 (12): 3662-8. doi:10.1182/blood. ... This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; ... Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may ... The TMEM50A gene is located on chromosome 1 p36.11 in the human (homo sapiens) genome. Its mRNA sequence is 2284 base pairs in ...

https://en.wikipedia.org/wiki/TMEM50A

"Systematic chromosomal deletion of bacterial ribosomal protein genes". Journal of Molecular Biology. 413 (4): 751-61. doi: ... Gao F, Luo H, Zhang CT, Zhang R (2015). "Gene essentiality analysis based on DEG 10, an updated database of essential genes". ... Taken together with previous results, 22 of the 54 E. coli ribosomal protein genes can be individually deleted from the genome ... November 2012). "Inactivation of ribosomal protein genes in Bacillus subtilis reveals importance of each ribosomal protein for ...

https://en.wikipedia.org/wiki/Ribosomal_protein

Harris TR, Hammock BD (September 2013). "Soluble epoxide hydrolase: gene structure, expression and deletion". Gene. 526 (2): 61 ... in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples". J. Hum. ... doi:10.1016/j.gene.2013.05.008. PMC 3733540. PMID 23701967. Sura P, Sura R, Enayetallah AE, Grant DF (2008). "Distribution and ... Soluble epoxide hydrolase (sEH) is a bifunctional enzyme that in humans is encoded by the EPHX2 gene. sEH is a member of the ...

https://en.wikipedia.org/wiki/Epoxide_hydrolase_2

https://en.wikipedia.org/wiki/Epoxydocosapentaenoic_acid

Harris, T. R.; Hammock, B. D. (2013). "Soluble epoxide hydrolase: Gene structure, expression and deletion". Gene. 526 (2): 61- ... The human gene that expresses POR is highly polymorphic (see Gene polymorphism); many of the polymorphic variant PORs cause ... Human CYP epoxygenase genes come in many single nucleotide polymorphism (SNP) variants some of which code for epoxygenase ... doi:10.1016/j.gene.2013.05.008. PMC 3733540. PMID 23701967. Hart, S. N.; Zhong, X. B. (2008). "P450 oxidoreductase: Genetic ...

https://en.wikipedia.org/wiki/Epoxygenase

"1 gene lost = 1 limb regained? Scientists demonstrate mammalian regeneration through single gene deletion". Medical Xpress. ... Many of the genes that are involved in the original development of tissues are reinitialized during the regenerative process. ... Humans Could Regenerate Tissue Like Newts By Switching Off a Single Gene Abdullah I, Lepore JJ, Epstein JA, Parmacek MS, Gruber ... Cells in the primordia of zebrafish fins, for example, express four genes from the homeobox msx family during development and ...

https://en.wikipedia.org/wiki/Regeneration_(biology)

Harris TR, Hammock BD (Sep 2013). "Soluble epoxide hydrolase: gene structure, expression and deletion". Gene. 526 (2): 61-74. ... Humans have 57 putatively active CYP genes and 58 CYP pseudogenes; only a relatively few of the active CYP genes code for EET- ... Mice lacking either of the EET-producing Cyp2c44 or Cyp4ac44 genes (by gene knockout) develop hypertension when fed high sodium ... sEH inhibitors and gene knockout also reduce the number and severity of Epileptic seizures in several animal models; this ...

https://en.wikipedia.org/wiki/Epoxyeicosatrienoic_acid

9q34 deletion syndrome occurs when the EHMT1 gene is non-functioning, as opposed to strictly deletion. Tests are either ... The geneticists discovered three new mutations within the EHMT1 gene. The first was an interstitial deletion, while the second ... 9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood ... Kleefstra and colleagues identified EHMT1 as the causative gene. This gene is responsible for producing the protein histone ...

https://en.wikipedia.org/wiki/9q34.3_deletion_syndrome

General Trsp gene deletion is lethal to the embryo. The results of this research was used as a model for Kashin-Beck disease. ... Deletion of the Trsp gene in osteochondroprogenitor cells results in abnormal bone growth, delayed ossification, ... Aug 2009). "Osteo-chondroprogenitor-specific deletion of the selenocysteine tRNA gene, Trsp, leads to chondronecrosis and ... General gene knock out of the TGF-β resulted in death. Conditional inactivation of TGF-βr2 of osteochondroprogenitor cells in ...

https://en.wikipedia.org/wiki/Osteochondroprogenitor_cell

A vaccinethat relies on targeted genetic alteration (gene deletion). arrests early during the liver stage. This vaccine, called ... and as a platform technology for liver-vectored gene delivery. SPZ are normally introduced into humans by mosquito bite where ...

https://en.wikipedia.org/wiki/Sanaria

... common occurrence of NKG2-C deletion in the general population". Genes and Immunity. 4 (2): 160-7. doi:10.1038/sj.gene.6363940 ... The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially ... gene deletion". International Immunology. 16 (1): 163-8. doi:10.1093/intimm/dxh013. PMID 14688071. Ortega C, Romero P, Palma A ... and D receptor genes in the human natural killer gene complex". Immunogenetics. 48 (3): 163-73. doi:10.1007/s002510050420. PMID ...

https://en.wikipedia.org/wiki/KLRC2

Max EE, Battey J, Ney R, Kirsch IR, Leder P (Jun 1982). "Duplication and deletion in the human immunoglobulin epsilon genes". ... "Entrez Gene: IGHE immunoglobulin heavy constant epsilon". Venkitaraman AR, Williams GT, Dariavach P, Neuberger MS (Aug 1991). " ... Ig epsilon chain C region is a protein that in humans is encoded by the IGHE gene. GRCh38: Ensembl release 89: ENSG00000211891 ... Ellison J, Buxbaum J, Hood L (1983). "Nucleotide sequence of a human immunoglobulin C gamma 4 gene". DNA. 1 (1): 11-8. doi: ...

https://en.wikipedia.org/wiki/IGHE

This "facilitates functional analysis by site-specific gene deletion." "Cochliobolus heterostrophus C5". Retrieved 25 October ...

https://en.wikipedia.org/wiki/Cochliobolus_heterostrophus

Deletion of CUL3 gene in mice causes embryonic lethality. Cullin 3-RING complex consists of Cullin 3 protein, RING-box protein ... "Entrez Gene: CUL3 cullin 3". Cheng J, Guo J, Wang Z, North BJ, Tao K, Dai X, Wei W (January 2018). "Functional analysis of ... Cullin 3 is a protein that in humans is encoded by the CUL3 gene. Cullin 3 protein belongs to the family of cullins which in ... Mutations in CUL3 gene are associated with Familial hyperkalemic hypertension disease. CRL complex containing Cullin 3 controls ...

https://en.wikipedia.org/wiki/CUL3

December 1994). "Deletion of p16 and p15 genes in brain tumors". Cancer Research. 54 (24): 6353-8. PMID 7987828. Guan KL, ... or p15INK4b is a protein that is encoded by the CDKN2B gene in humans. This gene lies adjacent to the tumor suppressor gene ... CDKN2B human gene location in the UCSC Genome Browser. CDKN2B human gene details in the UCSC Genome Browser. v t e (Articles ... January 2018). "CDKN2B deletion is essential for pancreatic cancer development instead of unmeaningful co-deletion due to ...

https://en.wikipedia.org/wiki/CDKN2B

This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD ... This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors ... "Entrez Gene: HOXD8 homeobox D8". Goodman FR (2003). "Limb malformations and the human HOX genes". Am. J. Med. Genet. 112 (3): ... Redline RW, Williams AJ, Patterson P, Collins T (1992). "Human HOX4E: a gene strongly expressed in the adult male and female ...

https://en.wikipedia.org/wiki/HOXD8

The GLIMMER (Gene Locator and Interpolated Markov ModelER) software was an early gene-finding program used for the ... deletions, duplications and four transition states. Solving this model using Baum-Welch demonstrated the ability to predict the ... or multiple genes (or even no gene at all) is present. GENSCAN was shown to exactly predict exon location with 90% accuracy ... locations compared to confirmed genes in prokaryotes. The GENSCAN webserver is a gene locator capable of analyzing eukaryotic ...

https://en.wikipedia.org/wiki/Baum–Welch_algorithm

The authors of the U.S. study concluded that "Our results indicate that SHC2 gene deletions underlie few, if any, cases of well ... The authors of this study hypothesized that there may be a link between the deletion of the SHC2 and the development of MSA. A ... The region in question includes the SHC2 gene which, in mice and rats, appears to have some function in the nervous system. ... February 2014). "SHC2 gene copy number in multiple system atrophy (MSA)". Clinical Autonomic Research. 24 (1): 25-30. doi: ...

https://en.wikipedia.org/wiki/Multiple_system_atrophy

... a common null allele of the ILT6 gene results from a 6.7-kbp deletion". European Journal of Immunology. 30 (12): 3655-62. doi: ... v t e v t e v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome, Wikipedia ... "Entrez Gene: LILRA3 leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3". Jones DC, Kosmoliaptsis ... The function of LILRA3 is currently unknown; however, it is highly homologous to other LILR genes, and can bind human leukocyte ...

https://en.wikipedia.org/wiki/LILRA3

Kawai H, Akaike M, Endo T, Adachi K, Inui T, Mitsui T, Kashiwagi S, Fujiwara T, Okuno S, Shin S (Sep 1995). "Adhalin gene ... "Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis". Human Mutation. 26 (1): 59. doi:10.1002/humu. ... "Entrez Gene: SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)". Bowe MA, Mendis DB, Fallon JR (Feb 2000). " ... McNally EM, Yoshida M, Mizuno Y, Ozawa E, Kunkel LM (Oct 1994). "Human adhalin is alternatively spliced and the gene is located ...

https://en.wikipedia.org/wiki/SGCA

... among imprinted genes. It has also been postulated that if the retrotransposed gene is inserted close to another imprinted gene ... Paternal inheritance of a deletion of this region is associated with Prader-Willi syndrome (characterised by hypotonia, obesity ... geneimprint.com Imprinted Gene and Parent-of-origin Effect Database J. Kimball's Imprinted Genes Site Genomic+imprinting at the ... Accordingly, paternally expressed genes tend to be growth-promoting whereas maternally expressed genes tend to be growth- ...

https://en.wikipedia.org/wiki/Genomic_imprinting

If there are deletions and mutations in the Y chromosome during reproduction, then different sex-linked genes are lost. The ... They differ because there are multiple sex determining genes on the Y chromosome of S. latifolia, while in humans the presence ... Two of these sex-linked genes "promote maleness" (male fertility and male promotion) and one of them codes for female ... Different combinations of the genes present in a Silene Y chromosome affect the sexual expression in the organism. For example ...

https://en.wikipedia.org/wiki/Sex_determination_in_Silene

Evidence of the deletion of the function of repair and recombination is the loss of the gene recA, gene involved in the ... An example for this is the deletion of recF, gene required for the function of recA, and its flanking genes. One of the ... a bias towards deletions (rather than insertions), which heavily affects genes that have been disrupted by accumulation of ... therefore the spread of the transposable elements will positively affect the rate of deletion. The loss of those genes in the ...

https://en.wikipedia.org/wiki/Genome_size

B lymphocytes can also participate in light chain receptor editing, VH gene replacement, or be released and later undergo ... Thus, clonal deletion can help protect individuals against autoimmunity. Clonal deletion is thought to be the most common type ... Incomplete clonal deletion results in apoptosis of most autoreactive B and T lymphocytes. Complete clonal deletion can lead to ... In immunology, clonal deletion is the removal through apoptosis of B cells and T cells that have expressed receptors for self ...

https://en.wikipedia.org/wiki/Clonal_deletion

"Entrez Gene: SLC27A2 solute carrier family 27 (fatty acid transporter), member 2". Perez VM, Gabell J, Behrens M, Wase N, ... DiRusso CD, Black PN (2020). "Deletion of fatty acid transport protein 2 (FATP2) in the mouse liver changes the metabolic ... v t e (Genes on human chromosome 15, Wikipedia articles incorporating text from the United States National Library of Medicine ... Very long-chain acyl-CoA synthetase is an enzyme that in humans is encoded by the SLC27A2 gene. The protein encoded by this ...

https://en.wikipedia.org/wiki/Very_long-chain_acyl-CoA_synthetase

Of the research to date, the sonic hedgehog pathway, MYC and KDR genes are implicated for esthesioneuroblastoma. Mutations in ... December 2018). "Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma". Nature ...

https://en.wikipedia.org/wiki/Esthesioneuroblastoma

This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. ... "High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy ... "Entrez Gene: Feline leukemia virus subgroup C cellular receptor family, member 2". NCBI. Wimer BM (Feb 1976). "Letter: ... Feline leukemia virus subgroup C cellular receptor family, member 2 is a protein that in humans is encoded by the FLVCR2 gene. ...

https://en.wikipedia.org/wiki/FLVCR2

Activity of ABL1 protein is negatively regulated by its SH3 domain, and deletion of the SH3 domain turns ABL1 into an oncogene ... This gene is a partner in a fusion gene with the BCR gene in the Philadelphia chromosome, a characteristic abnormality in ... The t(9;22) translocation results in the head-to-tail fusion of the BCR and ABL1 genes, leading to a fusion gene present in ... Mutations in the ABL1 gene are associated with chronic myelogenous leukemia (CML). In CML, the gene is activated by being ...

https://en.wikipedia.org/wiki/ABL_(gene)

Genes on human chromosome 17, Nuclear pore complex, All stub articles, Human chromosome 17 gene stubs). ... Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens ... "Entrez Gene: NUP85 nucleoporin 85kDa". Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation ... Nucleoporin 85 (Nup85) is a protein that in humans is encoded by the NUP85 gene. Bidirectional transport of macromolecules ...

https://en.wikipedia.org/wiki/Nucleoporin_85

Tao W, Pennica D, Xu L, Kalejta RF, Levine AJ (2001). "Wrch-1, a novel member of the Rho gene family that is regulated by Wnt-1 ... Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty three tests ... Wrch1 was identified in 2001 as encoded by a non-canonical Wnt induced gene. RhoU/Wrch delineates with RhoV/Chp a Rho subclass ... Portal: Biology v t e (G proteins, Genes mutated in mice, All stub articles, Protein stubs). ...

https://en.wikipedia.org/wiki/Wrch1

Endosymbiotic gene transfer, the process by which genes that were coded in the mitochondrial genome are transferred to the ... Deletion breakpoints frequently occur within or near regions showing non-canonical (non-B) conformations, namely hairpins, ... Adams KL, Palmer JD (December 2003). "Evolution of mitochondrial gene content: gene loss and transfer to the nucleus". ... Moreover, nuclear DNA genes involved in aerobic respiration and in mitochondrial DNA replication and transcription were either ...

https://en.wikipedia.org/wiki/Mitochondrial_DNA

Eugene O. Sykes (Mississippi) served the entire time the FRC existed and was appointed to the FCC in 1934. Henry Adams Bellows ... A prominent example under the FRC's jurisdiction occurred when a Gary, Indiana station, WJKS, proposed the deletion of its two ... Eugene O. Sykes, Henry A. Bellows, and Orestes H. Caldwell. Bullard, Dillon and Sykes were confirmed on March 4, but action on ...

https://en.wikipedia.org/wiki/Federal_Radio_Commission

1991). "Complete thyroxine-binding globulin (TBG) deficiency caused by a single nucleotide deletion in the TBG gene". Metab. ... 1996). "Gene amplification as a cause of inherited thyroxine-binding globulin excess in two Japanese families". J. Clin. ... 1991). "Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in ... Thyroxine-binding globulin (TBG) is a globulin protein that in humans is encoded by the SERPINA7 gene. TBG binds thyroid ...

https://en.wikipedia.org/wiki/Thyroxine-binding_globulin

1p36 deletion syndrome Chromosome 1, deletion q21 q25 Chromosome 1, duplication 1p21 p32 Chromosome 1, monosomy 1p Chromosome 1 ... familial dilated Cardiomyopathy due to anthracyclines Cardiomyopathy hearing loss type t RNA lysine gene mutation Hypertrophic ... deletion 11p Chromosome 11, partial trisomy 11q Chromosome 11-14 translocation Chromosome 11p, partial deletion Chromosome 11q ... deletion 14q, partial duplication 14p Chromosome 14, trisomy mosaic Chromosome 14q, partial deletions Chromosome 14q, proximal ...

https://en.wikipedia.org/wiki/List_of_diseases_(C)

Other mutations observed include a nonsense mutation, an in-frame deletion of amino acids and an entire gene deletion. De novo ... The SON gene is required for RNA splicing of transcripts encoding the cell-cycle protein TUBG1 and genes maintaining hESC ... Aberrant splicing and de novo heterozygous LoF mutations in SON gene disrupts the process of gene expression and can result in ... The SON gene is known to be a major cause of severe intellectual disability and consequent developmental disorders. The first ...

https://en.wikipedia.org/wiki/ZTTK_syndrome

Programmed cell death protein 10 is a protein that in humans is encoded by the PDCD10 gene. This gene encodes a protein, ... Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty five tests were ... www.angioma.org Angioma Alliance www.ccm3.org CCM3 Action (Genes on human chromosome 3, Genes mutated in mice). ... "Entrez Gene: PDCD10 programmed cell death 10". He Y, Zhang H, Yu L, Gunel M, Boggon TJ, Chen H, Min W (2010). "Stabilization of ...

https://en.wikipedia.org/wiki/PDCD10

... or RAD51 gene (single gene test or multi-gene panel) CMM has clear severe impacts on a patient's ability to carry out daily ... These findings are corroborated by evidence from mice models, Kanga mice with a deletion of DCC, whose CST has been shown not ... Mutations in the above genes account for a total of about 35 percent of cases. Mutations in other genes that have not been ... The genes that currently have evidence to be associated with CMM disorder include DCC (deleted in colorectal carcinoma), DNAL4 ...

https://en.wikipedia.org/wiki/Congenital_mirror_movement_disorder

McBride, KE, Svab, Z, Schaaf, DJ, Hogan, PS, Stalker, DM, Maliga, P (1995). "Amplification of a Chimeric Bacillus Gene in ... Allison, LA, Simon, LD, Maliga, P (1996). "Deletion of rpoB reveals a second distinct transcription system in plastids of ... Svab, Z, Maliga, P (February 1993). "High-frequency plastid transformation in tobacco by selection for a chimeric aadA gene". ... The toolkit for chloroplast genome engineering was completed by post-transformation excision of marker genes using phage site- ...

https://en.wikipedia.org/wiki/Pal_Maliga

Gene Gentry McMahon, and Roger Shimomura. Jones's mural is an interpretation of Seattle's place as a port city, using bright ... is being considered for deletion. See templates for discussion to help reach a consensus. › (Articles with short description, ...

https://en.wikipedia.org/wiki/Westlake_station_(Sound_Transit)

This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X ... Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens ... is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found ... "Entrez Gene: RBMX RNA binding motif protein, X-linked". Hofmann Y, Wirth B (Aug 2002). "hnRNP-G promotes exon 7 inclusion of ...

https://en.wikipedia.org/wiki/RBMX

The deletion that affects the protein coding region in humans results in a frameshift mutation in the CMAH gene which codes for ... Of the 510 identified hCONDELs, only one of these deletions has been shown to remove a 92 bp sequence that is part of a protein ... The loss of this gene is evident in the undetectable levels of sialic acid in humans but highly present in mouse, pig, ... An hCONDEL located near the locus of the androgen receptor (AR) gene may be responsible for the loss of whiskers and penile ...

https://en.wikipedia.org/wiki/HCONDELs

Deletion of the Lect2 gene in mice improves peripheral glucose entry into tissues. These studies suggest that mouse Lect2 ... in the LECT2 gene. This SNP occurs in exon 3 at codon 58 of the gene, contains a guanine rather than adenine nucleotide at this ... The human LECT2 gene, LECT2, is located on the long, i.e, "q", arm of chromosome 5 at position q31.1 (notated as 5q31.1). This ... LECT2 and its gene, LECT2, are currently areas of active research that seek to implicate them as contributors to, markers for ...

https://en.wikipedia.org/wiki/LECT2

... chromosomal deletions. Human growth hormone (HGH) deficiency may occur at any time during infancy or childhood, with the most ... resulting from the interplay of multiple familial genes. It can also be due to one or more of many abnormal conditions, such as ...

https://en.wikipedia.org/wiki/Short_stature

Lund EG, Xie C, Kotti T, Turley SD, Dietschy JM, Russell DW (2003). "Knockout of the cholesterol 24-hydroxylase gene in mice ... While the exact function of these proline residues remain highly speculative, it has been shown that the deletion of this ... Ma SL; Tang NLS; Lam LCW; Chiu HFK (March 2006). "Polymorphisms of the cholesterol 24-hydroxylase (CYP46A1) gene and the risk ... Desai P; DeKosky ST; Kamboh MI (August 2002). "Genetic variation in the cholesterol 24-hydroxylase (CYP46) gene and the risk of ...

https://en.wikipedia.org/wiki/Cholesterol_24-hydroxylase

False-negative RDT results and implications of new reports of P. falciparum histidine-rich protein 2/3 gene deletions ...

https://extranet.who.int/iris/restricted/browse?authority=Gene+Deletion&type=mesh

Home , Website archive , News archive , ioppn , Genetic consortium discover gene deletion that increases risk of schizophrenia ... Genes control how information is duplicated in the nervous system. *Maths and maps make you nervous? It could be in your genes ... Genetic consortium discover gene deletion that increases risk of schizophrenia. OCTOBER 28, 2008 ... These deletions also link schizophrenia directly to autism, since neurexin deletions are associated with both diseases. While ...

https://www.kcl.ac.uk/archive/news/ioppn/records/2008/10october/genetic-consortium-schizophrenia-risk

... ... CDC will update the published primer and probe sequence information to alert test developers of this TNF receptor gene deletion ... At this point, the TNF receptor gene deletion is rare. Molecular laboratory developed tests (LDTs) designed using the CDC ... Use a multiplex assay that targets multiple viral genes, or an assay that targets an essential viral gene which is unlikely to ...

https://www.cdc.gov/locs/2022/09-02-2022-lab-alert-MPXV_TNF_Receptor_Gene_Deletion_May_Lead_False_Negative_Results_Some_MPXV_Specific_LDTs.html

pfhrp2 deletion. pfhrp3 deletion. pfhrp2/3 double deletion. Wild-type. No.. Frequency, % (95% CI). No.. Frequency, % (95% CI). ... Plasmodium falciparum pfhrp2 and pfhrp3 Gene Deletions in Malaria-Hyperendemic Region, South Sudan Irene Molina-de la Fuente1, ... Deletions for pfhrp2 and pfhrp3 include both single and double deletions. All analyses used a 95% CI and a p value of ,0.05 for ... Plasmodium falciparum pfhrp2 and pfhrp3 Gene Deletions in Malaria-Hyperendemic Region, South Sudan. ...

https://wwwnc.cdc.gov/eid/article/29/1/22-0775-t2

Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional ... Mapping of a de novo unequal crossover causing a deletion of the steroid 21-hydroxylase (CYP21A2) gene and a non-functional ...

https://jmg.bmj.com/content/40/5/e53.altmetrics

Deletion of the OPA1 gene in a family with dominant optic atrophy: evidence that haploinsufficiency is the cause of disease. ... Deletion of the OPA1 gene in a family with dominant optic atrophy: evidence that haploinsufficiency is the cause of disease. In ... Deletion of the OPA1 gene in a family with dominant optic atrophy: evidence that haploinsufficiency is the cause of disease. / ... Deletion of the OPA1 gene in a family with dominant optic atrophy: evidence that haploinsufficiency is the cause of disease. ...

https://research-information.bris.ac.uk/en/publications/deletion-of-the-opa1-gene-in-a-family-with-dominant-optic-atrophy

... only point mutations and small insertions and deletions have been reported in TK2 gene; gross rearrangements of TK2 gene and ... Subsequent gene dosage analysis using oligonucleotide array CGH identified an intragenic approximately 5.8-kb deletion ... Sequence analysis confirmed that the deletion spans c.1-495 to c.283-2899 of the TK2 gene (nucleotide 65,136,256-65,142,086 of ... Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA ...

https://pesquisa.bvsalud.org/perinatal/resource/es/mdl-19815440

First, ordinary mutation introduces an insertion or deletion in one paralog. Then, deletion-biased gene conversion occurs ... and 132 insertions and 455 deletions in primate paralogs. Thus, nonallelic gene conversion is strongly deletion-biased in both ... and 132 insertions and 455 deletions in primate paralogs. Thus, nonallelic gene conversion is strongly deletion-biased in both ... A Strong Deletion Bias in Nonallelic Gene Conversion * Positive Selection for New Disease Mutations in the Human Germline: ...

https://www.prolekarniky.cz/casopisy/plos-genetics/2012-2/a-strong-deletion-bias-in-nonallelic-gene-conversion-42651

Cre recombinase in the form of a transgene is then employed to mediate deletion of the gene via the loxP sites, perhaps in a ... This approach offers the prospect of achieving induced gene deletion in whole animals and cell lines without the use of a Cre ... The Cre/loxP system now has a growing number of uses such as conditional gene deletion, transgene activation or inactivation, ... A gene of interest can be deleted in whole animals, for example, by first engineering the gene to strategically incorporate ...

https://augusta.elsevierpure.com/en/projects/inducible-gene-deletion-by-cre-recombinase-transduction

Response plan to pfhrp2 gene deletions World Health Organization (‎WHO/CDS/GMP/2019.02, 2019)‎ ... Additions and deletions of medicines on the WHO model lists of essential medicines: 1977-2017 World Health Organization (‎WHO ...

https://apps.who.int/iris/discover?filtertype_0=author&filter_relational_operator_0=equals&filter_0=World+Health+Organization&filtertype=dateIssued&filter_relational_operator=equals&filter=%5B2000+TO+2019%5D

Learn about this gene and related health conditions. ... The SHANK3 gene provides instructions for making a protein that ... including the SHANK3 gene. As a result of the deletion, people with this condition have only one copy of the SHANK3 gene in ... Researchers believe that a deletion of the SHANK3 gene and a reduction in the amount of SHANK3 protein produced is responsible ... 22q13.3 deletion syndrome. The characteristic signs and symptoms of 22q13.3 deletion syndrome, which is also commonly known as ...

https://medlineplus.gov/genetics/gene/shank3

CRISPR Vectors for Deletion of Human PKD2 Genes. March 21, 2022. /in Antibodies & Vectors, CRISPR Vectors for Deletion of Human ... 10CRISPR Vectors for Deletion of Human PKD2 Genes. ... PKD2 Gene /by Stacey Bridges. The vectors express human U6 ...

https://www.pkd-rrc.org/downloads/crispr-vectors-for-deletion-of-human-pkd2-gene/

14 different deletions were detected, providing a 16% deletion rate in the COL4A5 gene in the patient population. The deletions ... Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal ... Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal ... In this study, pulsed-field, PCR, and Southern analyses showed that a 100-kb deletion of the 3 end of the elastin gene ...

https://www.jci.org/93/3

Deletion of the Lkb1 (also called Stk11) gene in mice caused increased haematopoietic stem cell (HSC) division, rapid HSC ...

https://pubmed.ncbi.nlm.nih.gov/21124450/

https://extranet.who.int/iris/restricted/discover?locale-attribute=de&filter_relational_operator_0=equals&filtertype_0=author&filter_0=World+Health+Organization&filter=[2000+TO+2019]&filter_relational_operator=equals&filtertype=dateIssued

Deletion of the nucleotide excision repair gene Ercc1 reduces immunoglobulin class switching and alters mutations near switch ... Deletion of the nucleotide excision repair gene Ercc1 reduces immunoglobulin class switching and alters mutations near switch ... Deletion of the nucleotide excision repair gene Ercc1 reduces immunoglobulin class switching and alters mutations near switch ... Deletion of the nucleotide excision repair gene Ercc1 reduces immunoglobulin class switching and alters mutations near switch ...

https://experts.umn.edu/en/publications/deletion-of-the-nucleotide-excision-repair-gene-ercc1-reduces-imm

L. Wehmeier, et al., "A Corynebacterium glutamicum mutant with a defined deletion within the rpIK gene is impaired in (p)ppGpp ... A Corynebacterium glutamicum mutant with a defined deletion within the rpIK gene is impaired in (p)ppGpp accumulation upon ... A Corynebacterium glutamicum mutant with a defined deletion within the rpIK gene is impaired in (p)ppGpp accumulation upon ... "A Corynebacterium glutamicum mutant with a defined deletion within the rpIK gene is impaired in (p)ppGpp accumulation upon ...

https://pub.uni-bielefeld.de/record/1617736

Detailed mapping of the alpha gene complex shows that the deletion extends for 5.2 kb and removes the whole of the alpha 2 gene ... and the 5 end of the alpha 1 gene. The affected chromosome, therefore produces no normal alpha chains and results in a ... A new deletion causing alpha thalassemia has been characterised in a Greek family. ... Detailed mapping of the alpha gene complex shows that the deletion extends for 5.2 kb and removes the whole of the alpha 2 gene ...

https://www.imm.ox.ac.uk/publications/483629

CLINICAL POLYMORPHISMS AND APPROACHES OF ARRHYTHMIAS TREATMENT IN A FAMILY WITH P.DELKPQ1505-1507 DELETION IN SCN5A GENE ... CLINICAL POLYMORPHISMS AND APPROACHES OF ARRHYTHMIAS TREATMENT IN A FAMILY WITH P.DELKPQ1505-1507 DELETION IN SCN5A GENE. ... CLINICAL POLYMORPHISMS AND APPROACHES OF ARRHYTHMIAS TREATMENT IN A FAMILY WITH P.DELKPQ1505-1507 DELETION IN SCN5A GENE ... Gene. 2013; 517 (1): 1-11.. *Indik J.H., Pearson E.C., Fried K., Woosley R.L. Bazett and Fridericia Q-T correction formulas ...

https://vestnikramn.spr-journal.ru/jour/article/view/429/en_US

An analysis of possible off target effects following CAS9/CRISPR targeted deletions of neuropeptide gene enhancers from the ... An_analysis_of_possible_off_target_effects_following_CAS9CRISPR_targeted_deletions_of_neuropeptide_gene_enhancers_from_the_ ... An analysis of possible off target effects following CAS9/CRISPR targeted deletions of neuropeptide gene enhancers from the ...

https://aura.abdn.ac.uk/handle/2164/7773

Full length deep sequencing of South African hepatitis B virus isolates reveals increased viral diversity and X-gene deletions ... Full length deep sequencing of South African hepatitis B virus isolates reveals increased viral diversity and X-gene deletions ...

https://www.medawar.ox.ac.uk/publications/996664

Among these, 14 late genes were important for fitness in mice. Significantly, deletion of some late genes attenuated ... Among these, 14 late genes were important for fitness in mice. Significantly, deletion of some late genes attenuated ... Among these, 14 late genes were important for fitness in mice. Significantly, deletion of some late genes attenuated ... Among these, 14 late genes were important for fitness in mice. Significantly, deletion of some late genes attenuated ...

https://experts.illinois.edu/en/publications/deletion-analysis-of-streptococcus-pneumoniae-late-competence-gen

In addition, deletions of large portions of the PROS1 gene have been reported. Researchers located the first such deletion in ... 12] One gene is the active gene, PROS-α (ie, PROS1), and the other, PROS-β, is an evolutionarily duplicated nonfunctional gene ... A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families. Blood. 1991 Feb 1 ... Partial protein S gene deletion in a family with hereditary thrombophilia. Blood. 1989 Feb. 73(2):479-83. [QxMD MEDLINE Link]. ...

https://emedicine.medscape.com/article/205582-overview

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions. Genome Biol. 14, R36 ( ... R. intestinalis L1-82 gene expression in response to xylose (X1) relative to glucose (Glc) obtained from RNA-seq analysis. ...

https://www.nature.com/articles/s41564-018-0132-8?error=cookies_not_supported&code=e8bcd2f2-c46c-4882-a102-97cfab765088

We identified a genetic antimicrobial resistance cassette carrying the ant(3)-Ia, dfrA15, qacE, and sul1 genes associated with ... and forming part of the specific gene content of each cluster. This study presents, for the first time, the genomic ... transposons TnAs3 and IS21 within an IncI1 plasmid in one guinea pig isolate, while antimicrobial resistance genes (ARGs) for & ... lacking the fljA and fljB genes. Phylogenomic analysis showed that human isolates from Peru were located within the same ...

https://www.mdpi.com/2076-2607/10/9/1726

Gene Deletion (Up to 300 kb in size) by CRISPR/Cas9.: $8,500. Service Description *Bioinformatics analysis of genomic locus to ... Note: this service is limited to three MI/EP sessions with no guarantee of success if the deletion results in embryonic/ ... Breeding founder mice with C57BL/6J mice to heterozygosity and to determine GLT of deletion; ... Delivery of mice (at least two heterozygous mice) carrying the desired genomic deletion;. ...

https://research.musc.edu/cores/tge/services-pricing

Identify genes involved in triggering mycotoxin biosynthesis using high-through put bioassays. Assays involve use of deletion ... Discover natural compounds that disrupt functionality of gene targets identified. Develop biosensors for detecting toxic fungi ...

https://www.nal.usda.gov/research-tools/food-safety-research-projects/chemical-approaches-eliminate-fungal-contamination-and

Deletions in the dystrophin gene represent 65% of mutations in DMD/BMD patients. To explain the contribution of ... We have analyzed the patients with immunohistochemical staining and PCR multiplex to screen for exons deletions. Determination ... are X-linked recessive disorders caused by mutations of the DMD gene located at Xp21. In DMD patients, dystrophin is virtually ... Patient 10 with deletion of promoter Pm. Patient 7 with deletion of exon 52. Patient 4 with deletion of exons 3 and 6. Patient ...

https://www.hindawi.com/journals/bmri/2009/325210/

In primates, the deletion bias is considerably stronger for long indels and, in both lineages, the per-site rate of gene conversion is orders of magnitudes higher than that of ordinary mutation. (prolekarniky.cz)
The sequences of related DNA segments can diverge via ordinary mutation or converge via gene conversion. (prolekarniky.cz)
A benefit of this approach is that it assumes nothing about the process or biases of ordinary mutation, because an ancestral length difference between paralogs can be caused by either an insertion or a deletion. (prolekarniky.cz)
Analysis of liver and muscle specimens from one of the deceased infants in this family revealed compound heterozygosity for the paternal point mutation and maternal intragenic deletion. (bvsalud.org)
The fetus was found to carry both the point mutation and the deletion. (bvsalud.org)
The aim of the study was to analyze spectrum of manifestation and treatment response in large family with rhythm disturbances caused by p.delKPQ1505-1507 mutation in SCN5A gene. (spr-journal.ru)
Mutation screening in SCN5A gene was performed using bidirectional Sanger sequencing. (spr-journal.ru)
Here by we show the observation of Iranian family with known mutation p.delKPQ 1505-1507 in SCN5A gene, who display not only LQ-TS phenotype but also some of the carriers of this mutation have had LQ-TS and Brugada syndrome (combine phenotype), interestingly. (spr-journal.ru)
Evidence for arterial thrombosis in other hereditary thrombophilias (eg, protein C deficiency, antithrombin III deficiency, or factor V Leiden gene mutation) also appears to be minimal. (medscape.com)
Patients with VHL disease have an increased risk of developing renal cysts and bilateral, multifocal solid or cystic clear cell renal cell carcinomas (ccRCCs), in which the wild-type VHL allele is invariably lost due to somatic mutation or gene silencing. (lww.com)
This particular mutation leads to failure of one of the polymerase chain reaction (PCR) targets (sometimes called S-gene target failure (SGTF)) when the virus is tested with assays that include an S gene target, including the Thermo Fisher Scientific TaqPath™ COVID-19 Combo Kit diagnostic assay 4 . (cdc.gov)
This disease, previously referred to as MCKD type 1, is due to a mutation in the variable-number tandem repeat region of the MUC1 (Mucin 1) gene. (medscape.com)

Thymidine kinase 2 (TK2), encoded by the TK2 gene on chromosome 16q22, is one of the deoxyribonucleoside kinases responsible for the maintenance of mitochondrial deoxyribonucleotide pools. (bvsalud.org)
Sequence analysis confirmed that the deletion spans c.1-495 to c.283-2899 of the TK2 gene ( nucleotide 65,136,256-65,142,086 of chromosome 16 ). (bvsalud.org)
The characteristic signs and symptoms of 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, are caused by a deletion near the end of the long (q) arm of chromosome 22. (medlineplus.gov)
The locus at chromosome 1q21 was identified by linkage mapping in 1998, but the gene has only recently been discovered due to difficulty with sequencing this highly repetitive region and was previously missed using next-generation sequencing. (medscape.com)

Here, we investigate insertions and deletions produced by nonallelic gene conversion in 338 Drosophila and 10,149 primate paralogs. (prolekarniky.cz)
Using a direct phylogenetic approach, we identify 179 insertions and 614 deletions in Drosophila paralogs, and 132 insertions and 455 deletions in primate paralogs. (prolekarniky.cz)
Thus, nonallelic gene conversion is strongly deletion-biased in both lineages, with almost 3.5 times as many conversion-induced deletions as insertions. (prolekarniky.cz)
A phylogenetic approach for detecting insertions and deletions produced by nonallelic gene conversion. (prolekarniky.cz)
Overall, these assays and approaches detect specific mutations or features such as insertions, deletions and point mutations in the SARS CoV-2 genome that are characteristic of a particular VOC/VOI using PCR. (who.int)

Though a number of studies have examined nucleotide replacements, little is known about length difference mutations produced by gene conversion. (prolekarniky.cz)
Here, we explore length difference mutations produced by nonallelic gene conversion. (prolekarniky.cz)
gross rearrangements of TK2 gene and possible hepatic involvement in patients with TK2 mutations have not been described. (bvsalud.org)
While the myopathic form of MDDS appears to be the main phenotype of TK2 mutations , liver dysfunction may also be a part of the mitochondrial depletion syndrome caused by TK2 gene defects. (bvsalud.org)
At least 43 SHANK3 gene mutations have been found in people who have autism spectrum disorder (ASD), which is a varied condition characterized by impaired communication and socialization skills, as well as repetitive behaviors. (medlineplus.gov)
Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome. (sigmaaldrich.com)
Some mutations in the S gene may lead to changes in the spike protein which result in inhibition of contact and entry of the virus into human cells, however in the case of the VOC, they contain mutations in the S gene that enhance the process of contact and entry into human cells, increasing transmissibility of the virus. (who.int)
Currently, manufacturers are focusing on and targeting assays to mutations in the S gene. (who.int)

These late genes were systematically deleted, and the resulting mutants were examined for their fitness during mouse models of bacteremia and acute pneumonia. (illinois.edu)
In contrast, some mutants were attenuated only in the wild-type genetic background but not in the ComX-null background, suggesting that specific expression of these genes during competence state contributed to pneumococcal fitness. (illinois.edu)
Assays involve use of deletion mutants, gene knockouts and complementation analysis. (usda.gov)

Deletions for pfhrp2 and pfhrp3 include both single and double deletions. (cdc.gov)

A number of studies have examined nucleotide replacements produced by allelic and nonallelic gene conversion, some of which have uncovered a GC bias [6] - [9] . (prolekarniky.cz)
Elimination of a length difference was due to an insertion if one paralog acquired an additional nucleotide(s) at that position, and was due to a deletion if it lost a nucleotide(s) at that position. (prolekarniky.cz)

Due to this high rate, deletion-biased nonallelic gene conversion plays a key role in genome size evolution, leading to the cooperative shrinkage and eventual disappearance of selectively neutral paralogs. (prolekarniky.cz)
Current diagnostic PCR assays target a variety of SARS CoV-2 genes and the vast majority target sequences in regions of the SARS CoV-2 genome that are highly conserved. (who.int)

Gene Deletion (Up to 300 kb in size) by CRISPR/Cas9. (musc.edu)

The investigators intend to develop this new research resource to the stage of being able to induce efficient and complete deletion of loxP-flanked targets in whole mice, by simply injecting mice with TATCre protein. (elsevierpure.com)
Deletion of the Lkb1 (also called Stk11) gene in mice caused increased haematopoietic stem cell (HSC) division, rapid HSC depletion and pancytopenia. (nih.gov)
Among these, 14 late genes were important for fitness in mice. (illinois.edu)
In contrast with findings in other cystic models, cysts in Kif3a mutant mice did not display accumulation of hypoxia-inducible factor 1- α (HIF1 α ), and deletion of both Hif1a and Kif3a did not affect cyst development or progression. (lww.com)
Here, we applied calcium imaging to characterize the odorant response properties of single neurons from gene-targeted mice in which the green fluorescent protein is coexpressed with a particular OR. (jneurosci.org)

Such assays can be used as a screen to presumptively identify SARS-CoV-2 variants that have the Δ69-70 deletion, including the Omicron variant. (cdc.gov)

Use a multiplex assay that targets multiple viral genes, or an assay that targets an essential viral gene which is unlikely to mutate, or an assay that detects non-variola Orthopoxvirus . (cdc.gov)
The viral S gene is important as it codes for the Spike protein which is the molecule that makes contact with, and allows entry of the virus into susceptible host cells, causing infection. (who.int)

David Collier said "Although deletions in neurexin 1 are rare, they increase the risk of schizophrenia by ten-fold, a much higher risk than had been expected for genetic factors predisposing for this disorder. (kcl.ac.uk)
Gene conversion is the unidirectional transfer of genetic information between orthologous (allelic) or paralogous (nonallelic) genomic segments. (prolekarniky.cz)
Interestingly, only 16 late genes are essential for genetic transformation. (illinois.edu)
Significantly, deletion of some late genes attenuated pneumococcal fitness to the same level in both wild-type and ComX-null genetic backgrounds, suggesting that the constitutive baseline expression of these genes was important for bacterial fitness. (illinois.edu)
von Hippel-Lindau (VHL) disease is an autosomal dominant genetic disorder caused by inheritance of a mutant allele of the VHL gene. (lww.com)
Association of genetic variations in antioxidant enzyme genes with diisocyanate-induced asthma in exposed workers. (cdc.gov)
A case-control study was conducted to investigate whether genetic variations within antioxidant enzyme genes, glutathione S-transferases (GSTM1- GSTT1, GSTM3, GSTP1), manganese superoxide dismutase (MnSOD) and microsomal epoxide hydrolase (EPHX1), play a role in susceptibility to DA. (cdc.gov)

Some SARS-CoV-2 variants, including the Omicron variant, have Δ69-70 deletion in the spike (S) gene. (cdc.gov)
UMOD risk variants identified in the above-mentioned GWAS are located in the promoter region of the gene, leading to a theory that they altered UMOD expression. (medscape.com)

Researchers believe that a deletion of the SHANK3 gene and a reduction in the amount of SHANK3 protein produced is responsible for many of the features of 22q13.3 deletion syndrome. (medlineplus.gov)
A decrease in the functioning of synapses and cell-to-cell communication between neurons caused by a lack of SHANK3 protein is thought to contribute to the developmental delay, intellectual disability, and absent or severely delayed speech characteristic of people with 22q13.3 deletion syndrome. (medlineplus.gov)
Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. (medlineplus.gov)
Goldenhar and Cri-du-chat syndromes: a contiguous gene deletion syndrome? (bvsalud.org)

CDC is aware of three mpox virus (MPXV) cases in California in which preliminary data show a significant deletion in the tumor necrosis factor (TNF) receptor gene. (cdc.gov)
Loss of function of the von Hippel-Lindau tumor suppressor gene ( VHL ) predisposes renal epithelial cells to loss of the primary cilium in response to specific signals. (lww.com)

The SHANK3 gene provides instructions for making a protein that is found in many of the body's tissues but is most abundant in the brain. (medlineplus.gov)
The rpIK gene of Corynebacterium glutamicum ATCC13032 comprises 438 nucleotides and encodes a protein of 145 amino acids with a molecular mass of 15.3 kDa. (uni-bielefeld.de)
The C. glutamicum rpIK gene is located downstream of secE, representing part of the protein export apparatus, and of nusG, encoding a transcription antiterminator protein. (uni-bielefeld.de)
The rpIK gene is followed by an ORF homologous to rpIA encoding the 50S ribosomal protein LI. (uni-bielefeld.de)
A C. glutamicum rplK mutant strain carrying a 12 bp in-frame deletion within rplK, which resulted in the loss of the tetrapeptide Pro-Ala-Leu-Gly in the L11 protein, was constructed. (uni-bielefeld.de)
The S gene is one of the structural genes of the virus which encodes for a protein that sits on the surface of the SARS CoV-2 virus. (who.int)

This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. (bvsalud.org)

Discover natural compounds that disrupt functionality of gene targets identified. (usda.gov)

These deletions also link schizophrenia directly to autism, since neurexin deletions are associated with both diseases. (kcl.ac.uk)

The reason we want to identify the genes involved is to improve management and treatment for the patient, and in the case of schizophrenia this may mean tests to help manage risk and allow early intervention. (kcl.ac.uk)
Public health laboratories and select commercial laboratories use the CDC FDA cleared NVO test, which can correctly identify Orthopoxvirus when the TNF gene deletion occurs. (cdc.gov)
Identify genes involved in triggering mycotoxin biosynthesis using high-through put bioassays. (usda.gov)

Variations in other genes and environmental factors are also thought to affect the risk of this complex disorder. (medlineplus.gov)
Since EPHX1 and GSTT1 genes are important components of lung defense against oxidative stress, variations in these genes which regulate their expression may represent important disease modifiers and contribute to DA susceptibility. (cdc.gov)

Esta eliminación puede detectarse con técnicas citogenéticas y también puede inferirse si el fenotipo indica una eliminación en un locus específico. (bvsalud.org)

In a major paper published on the 22nd October 2008 in the online edition of the journal Human Molecular Genetics, the SGENE consortium has identified a series of deletions in the neurexin 1 gene as being associated with schizophrenia. (kcl.ac.uk)

CDC will update the published primer and probe sequence information to alert test developers of this TNF receptor gene deletion. (cdc.gov)
In contrast, paralogs, or nonallelic segments, are found at different genomic loci and can have any copy number, in which each copy is derived from an ancestral sequence via gene duplication [1] . (prolekarniky.cz)

Molecular laboratory developed tests (LDTs) designed using the CDC published primers and probes that specifically target mpox virus did NOT detect the virus because of the TNF receptor gene deletion in these specimens. (cdc.gov)
This particular assay tests for three different SARS-CoV-2 genes so will still detect the virus but will fail to detect the S gene target specifically. (cdc.gov)

In contrast to orthologs, paralogs have their own independent long-term phylogenies, making it possible to apply a direct phylogenetic approach to study their coevolution by gene conversion ( Figure 1 ). (prolekarniky.cz)

These results distinguish the role of basal expression versus competence induction in virulence functions encoded by ComX-regulated late competence genes. (illinois.edu)

We hypothesized that these late genes that are dispensable for competence are beneficial to pneumococcal fitness during infection. (illinois.edu)

Subsequent gene dosage analysis using oligonucleotide array CGH identified an intragenic approximately 5.8-kb deletion encompassing the 5'UTR to intron 2 of her TK2 gene . (bvsalud.org)
Moreover, they demonstrated that phosphorylated NKCC2 levels rose in tandem with UMOD gene dosage. (medscape.com)

During competence development, the alternative sigma factor ComX is activated, which in turn, initiates transcription of 80 'late' competence genes. (illinois.edu)

At this point, the TNF receptor gene deletion is rare. (cdc.gov)

Cre recombinase in the form of a transgene is then employed to mediate deletion of the gene via the loxP sites, perhaps in a cell-type specific or restricted manner. (elsevierpure.com)
In this way, researchers can, for example, by-pass embryonic lethality that might occur with a conventional knockout mouse approach and/or dissect the in vivo role of a widely expressed gene in specific cell types. (elsevierpure.com)
This approach offers the prospect of achieving induced gene deletion in whole animals and cell lines without the use of a Cre recombinase transgene, and, therefore, provides many more potential avenues for research. (elsevierpure.com)
As a result of the deletion, people with this condition have only one copy of the SHANK3 gene in each cell instead of the usual two copies. (medlineplus.gov)

A new deletion causing alpha thalassemia has been characterised in a Greek family. (ox.ac.uk)
To test this hypothesis, we analyzed the consequences of inducible renal epithelium-specific deletion of Vhl together with ablation of the primary cilium via deletion of the kinesin family member 3A ( Kif3a ) gene. (lww.com)

Here, we report the analysis of odorant response properties from genetically identified OSNs that express particular OR genes and that send convergent axonal projections to defined glomeruli. (jneurosci.org)

It is unclear how changes in the SHANK3 gene are related to the risk of developing ASD. (medlineplus.gov)
The EPHX1 SNP (rs2740171) and GSTT1 gene deletion were associated with altered risk of developing DA after adjusting for potential confounders. (cdc.gov)

this service is limited to three MI/EP sessions with no guarantee of success if the deletion results in embryonic/postnatal lethality. (musc.edu)

The Cre/loxP system now has a growing number of uses such as conditional gene deletion, transgene activation or inactivation, and translocation between nonhomologous mouse chromosomes. (elsevierpure.com)

It is also apparent that some people carry these deletions but do not get ill. (kcl.ac.uk)

The chromosomal region that is typically deleted is thought to contain many genes, including the SHANK3 gene. (medlineplus.gov)

Variables were considered categorical variables and the association between them and deletions were assessed using χ 2 testing. (cdc.gov)

Anatomy19

Organisms14

Diseases25

Chemicals and Drugs62

Analytical, Diagnostic and Therapeutic Techniques and Equipment37

Psychiatry and Psychology1

Phenomena and Processes111

Disciplines and Occupations3

Technology, Industry, Agriculture1

Information Science4

Health Care1

The role of RBF in the introduction of G1 regulation during Drosophila embryogenesis. (1/19725)

Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (2/19725)

Deletion of multiple immediate-early genes from herpes simplex virus reduces cytotoxicity and permits long-term gene expression in neurons. (3/19725)

Downregulation of metallothionein-IIA expression occurs at immortalization. (4/19725)

p73 at chromosome 1p36.3 is lost in advanced stage neuroblastoma but its mutation is infrequent. (5/19725)

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. (6/19725)

Pyrin/marenostrin mutations in familial Mediterranean fever. (7/19725)

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. (8/19725)

Gene Deletion

Sequence Deletion

Chromosome Deletion

Molecular Sequence Data

Base Sequence

Mutation

Mice, Knockout

Phenotype

Polymerase Chain Reaction

Integrases

Exons

Homozygote

Amino Acid Sequence

Saccharomyces cerevisiae

Mice, Inbred C57BL

DNA Mutational Analysis

Blotting, Southern

Recombination, Genetic

Chromosome Mapping

Gene Knockout Techniques

Heterozygote

Genotype

Pedigree

Alleles

In Situ Hybridization, Fluorescence

Genetic Complementation Test

Plasmids

Genes, Essential

Cloning, Molecular

Saccharomyces cerevisiae Proteins

Gene Targeting

Genes, Fungal

Bacterial Proteins

DNA Primers

DNA

Promoter Regions, Genetic

Transcription, Genetic

Restriction Mapping

Point Mutation

Gene Expression Regulation, Fungal

Gene Dosage

Multigene Family

Sequence Analysis, DNA

Mutagenesis, Insertional

Cell Line

Genome, Fungal

Mutagenesis

RNA, Messenger

Escherichia coli

Hemoglobins, Abnormal

Syndrome

Genes

delta-Thalassemia

Abnormalities, Multiple

Gene Duplication

Haploinsufficiency

Transcription Factors

Genetic Engineering

Genes, Bacterial

Dystrophin

Haploidy

Chromosomes, Human, Pair 9

Fungal Proteins

Intellectual Disability

DNA-Binding Proteins

Muscular Dystrophies

Virulence

Gene Expression Regulation, Bacterial

Chromosomes, Human, Pair 17

Models, Genetic

Glutathione Transferase

Gene Expression Regulation

alpha-Globins

Comparative Genomic Hybridization

Signal Transduction

Steroid 21-Hydroxylase

Polymorphism, Genetic

Metabolic Engineering

Frameshift Mutation

Gene Rearrangement