Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Polymorphism, Genetic: 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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Mutation: 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.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Haplotypes: 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.Genetic Variation: Genotypic differences observed among individuals in a population.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Molecular Sequence Data: 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.Homozygote: An individual in which both alleles at a given locus are identical.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Polymerase Chain Reaction: 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.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.Microsatellite Repeats: 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).Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.HLA-DRB1 Chains: A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.Crosses, Genetic: 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.Polymorphism, Restriction Fragment Length: 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.Models, Genetic: 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.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Amino Acid Sequence: 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.Pedigree: 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.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Exons: 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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.DNA Primers: 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.HLA-DQ Antigens: A group of the D-related HLA antigens found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.HLA-DR Antigens: A subclass of HLA-D antigens that consist of alpha and beta chains. The inheritance of HLA-DR antigens differs from that of the HLA-DQ ANTIGENS and HLA-DP ANTIGENS.Genes, Lethal: 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.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.HLA-B Antigens: Class I human histocompatibility (HLA) surface antigens encoded by more than 30 detectable alleles on locus B of the HLA complex, the most polymorphic of all the HLA specificities. Several of these antigens (e.g., HLA-B27, -B7, -B8) are strongly associated with predisposition to rheumatoid and other autoimmune disorders. Like other class I HLA determinants, they are involved in the cellular immune reactivity of cytolytic T lymphocytes.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Apolipoprotein E4: A major and the second most common isoform of apolipoprotein E. In humans, Apo E4 differs from APOLIPOPROTEIN E3 at only one residue 112 (cysteine is replaced by arginine), and exhibits a lower resistance to denaturation and greater propensity to form folded intermediates. Apo E4 is a risk factor for ALZHEIMER DISEASE and CARDIOVASCULAR DISEASES.Suppression, Genetic: Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).Point Mutation: 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.DNA: 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).Recombination, Genetic: 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.Minisatellite Repeats: Tandem arrays of moderately repetitive, short (10-60 bases) DNA sequences which are found dispersed throughout the GENOME, at the ends of chromosomes (TELOMERES), and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit.Genetic Complementation Test: 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.Heterozygote Detection: Identification of genetic carriers for a given trait.Gene Deletion: 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.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Promoter Regions, Genetic: 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.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.HLA-DQ alpha-Chains: Transmembrane proteins that form the alpha subunits of the HLA-DQ antigens.Introns: 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.Cloning, Molecular: 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.Genes, Plant: The functional hereditary units of PLANTS.Saccharomyces cerevisiae: 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.Epistasis, Genetic: A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Genetic Testing: 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.HLA Antigens: Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases.Apolipoproteins E: A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.Genes, Fungal: The functional hereditary units of FUNGI.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.China: A country spanning from central Asia to the Pacific Ocean.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.HLA-A Antigens: Polymorphic class I human histocompatibility (HLA) surface antigens present on almost all nucleated cells. At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. They serve as targets for T-cell cytolytic responses and are involved with acceptance or rejection of tissue/organ grafts.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Genes: 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.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Polymorphism, Single-Stranded Conformational: 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.DNA-Binding Proteins: 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.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Dinucleotide Repeats: The most common of the microsatellite tandem repeats (MICROSATELLITE REPEATS) dispersed in the euchromatic arms of chromosomes. They consist of two nucleotides repeated in tandem; guanine and thymine, (GT)n, is the most frequently seen.HLA-C Antigens: Class I human histocompatibility (HLA) antigens encoded by a small cluster of structural genes at the C locus on chromosome 6. They have significantly lower immunogenicity than the HLA-A and -B determinants and are therefore of minor importance in donor/recipient crossmatching. Their primary role is their high-risk association with certain disease manifestations (e.g., spondylarthritis, psoriasis, multiple myeloma).Mutagenesis, Insertional: 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.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Blotting, Southern: 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.Gene Dosage: 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.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.RNA, Messenger: 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.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Zea mays: A plant species of the family POACEAE. It is a tall grass grown for its EDIBLE GRAIN, corn, used as food and animal FODDER.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Fungal Proteins: Proteins found in any species of fungus.Genes, MHC Class II: Genetic loci in the vertebrate major histocompatibility complex that encode polymorphic products which control the immune response to specific antigens. The genes are found in the HLA-D region in humans and in the I region in mice.Trinucleotide Repeats: Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.Genes, Suppressor: Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.Frameshift Mutation: 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.Saccharomyces cerevisiae Proteins: 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.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Sequence Alignment: 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.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.

*  Sequence Detail

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other ...
informatics.jax.org/sequence/OTTMUSG00000043609

*  BINNING manuals

recode ,marker, ,all1,value1,...,allN,valueN, to ,new allele,new value,. Allows pooling of marker alleles prior to subsequent ... Alleles at a marker locus are floating point values. A pedigree file may contain a comment at any time, prefaced by ! or #, and ... A program to call alleles based on approximate length data. David L. Duffy, MBBS PhD.. Queensland Institute of Medical Research ... set cutpoint ,cutpt,. Controls the difference between the lengths of two allele lengths below which the alleles are regarded to ...
https://genepi.qimr.edu.au/staff/davidD/Sib-pair/Documents/binning.html

*  Genotyping using the LightCycler® 480 System

Figure 5: Melting curves for different alleles and allele combinations, obtained with the depicted, internally labeled ... Allele-specific primers or probes are not needed; the same sequence is used for all alleles of an investigated SNP, or can even ... With Melting Curve Analysis, different alleles or allele combinations are identified due to the differing interaction strengths ... Saves costs since the same probe covers all investigated alleles or even several SNPs together. ...
https://lifescience.roche.com/en_no/articles/genotyping-using-the-lightCycler-480-System.html

*  Plus it

The associated DQ and DR alleles that share these resistance HLA epitopes include disparate alleles that were not identified by ... The HLA alleles that share this epitope include DPB1*02:02 and two rare alleles, DPB1*100:01 and *34:01. Therefore, HEAP ... and is found in five alleles (Table 2). Three of the alleles, DQB1*02:01, *02:02, and *03:02, were more common in patients than ... rare alleles were identified because HLA epitopes were first determined at the amino acid level and then the associated alleles ...
diabetes.diabetesjournals.org/content/63/1/323

*  diabetes

The resistant alleles, like those of the DR isotype expressing aspartic acid, elicit a primarily Th2 cell response. Studies ... It is thought that the alleles that determine the two major isotypes of MHC class II molecule, HLA-DQ or -DR, control the ... It is believed that MHC alleles susceptible to autoantigen specific T cells, particularly Th1 cells specific for B cell islet ... 1996; HLA-disease associations and transplantation). The following table shows the possible combinations of HLA alleles and ...
bio.davidson.edu/courses/immunology/Students/spring2000/hutchins/restricted/diabetes.html

*  A Mature Cell Is More Likely to Favor Mom's or Dad's Alleles | GEN

Cells that activate only one of two homologous alleles during development are more likely to be mature, differentiated cells. ... In general, individual cells express both the maternal and the paternal copies, or alleles, of a given gene. Occasionally, ... A Mature Cell Is More Likely to Favor Mom's or Dad's Alleles * Kevin Mayer ...
genengnews.com/gen-news-highlights/a-mature-cell-is-more-likely-to-favor-mom-s-or-dad-s-alleles/81249547

*  High-resolution HLA alleles and haplotypes in the United States population.

Abstract We extract and present high-resolution HLA allele and haplotype frequency data available from the National Marrow Donor Program databases from four major U.S. census categ..
https://omicsonline.org/references/highresolution-hla-alleles-and-haplotypes-in-the-united-states-population-155913.html

*  Rapid generation of drug-resistance alleles at endogenous loci using CRISPR-Cas9 indel mutagenesis. | Sigma-Aldrich

Rapid generation of drug-resistance alleles at endogenous loci using CRISPR-Cas9 indel mutagenesis.. [Jonathan J Ipsaro, Chen ... This method takes advantage of the heterogeneous in-frame alleles produced following Cas9-mediated DNA cleavage, which we show ... We used this approach to identify novel resistance alleles of two lysine methyltransferases, DOT1L and EZH2, which are each ... Unfortunately, for many therapeutic targets such alleles are not available. To address this issue, we evaluated whether CRISPR- ...
sigmaaldrich.com/catalog/papers/28231254

*  JCI - Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.

Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.. T Kadowaki, H Kadowaki ... Both nonsense mutations markedly reduced the levels of insulin receptor mRNA transcribed from the alleles with the nonsense ...
https://jci.org/articles/view/114693

*  Genetic Heterogeneity in Wilson Disease: Lessons from Rare Alleles | Annals of Internal Medicine | American College of...

Effects of CCR5-Δ 32, CCR2-64I, and SDF-1 3′A Alleles on HIV-1 Disease Progression: An International Meta-Analysis of ... Mortality Rates among Carriers of Ataxia-Telangiectasia Mutant Alleles Annals of Internal Medicine; 133 (10): 770-778 ... Genetic Heterogeneity in Wilson Disease: Lessons from Rare Alleles. Ann Intern Med. 1997;127:70-72. doi: 10.7326/0003-4819-127- ... Genetic Heterogeneity in Wilson Disease: Lessons from Rare Alleles Reed Edwin Pyeritz, MD, PhD ...
annals.org/aim/article/710652/genetic-heterogeneity-wilson-disease-lessons-from-rare-alleles

*  HLA Alleles are Associated With Altered Risk for Disease Pro... : JAIDS Journal of Acquired Immune Deficiency Syndromes

Among the HLA class I alleles, presence of homozygous class I B alleles [HR (homozygotes vs. heterozygotes): 1.66; P = 0.05] ( ... Associations of HLA Class I Alleles With HIV-1-Related PFS and CNS Impairment. Strikingly, among the HLA class I alleles, ... and Cw-4 alleles were associated with more rapid disease progression.33 However, many of these alleles such as A-1, A-23, B-35 ... In previous studies, it has been demonstrated that A-11, B-27, B-51, B-57, B-58, Cw-2, and Cw-14 alleles were associated with ...
journals.lww.com/jaids/Fulltext/2011/05010/HLA_Alleles_are_Associated_With_Altered_Risk_for.5.aspx

*  High Producing Tumor Necrosis Factor Alpha Gene Alleles in Protection against Severe Manifestations of Dengue [Abstract]

High Producing Tumor Necrosis Factor Alpha Gene Alleles in Protection against Severe Manifestations of Dengue Sing-Sin Sam1, ... Sam SS, Teoh BT, Chinna K, AbuBakar S. High Producing Tumor Necrosis Factor Alpha Gene Alleles in Protection against Severe ...
medsci.org/v12p0177

*  Genetic Cre-loxP Assessment of Epicardial Cell Fate Using Wt1-Driven Cre Alleles | Circulation Research

A number of such alleles has been reported.8-13 Each has its own strengths and weaknesses, and none described to date are ... Inducible Cre alleles allow one to activate recombination at defined times, when the domain of Cre expression can be carefully ... Genetic Cre-loxP Assessment of Epicardial Cell Fate Using Wt1-Driven Cre Alleles. Bin Zhou, William T. Pu ... These Cre alleles, in combination with complementary labeling approaches in avian embryos, have shown that epicardium-derived ...
circres.ahajournals.org/content/111/11/e276

*  PPT - Conflict between alleles and modifiers in the evolution of genetic polymorphisms PowerPoint Presentation - ID:4259742

Conflict between alleles and modifiers in the evolution of genetic polymorphisms. Hans Metz. & Mathematical Institute, Leiden ... Conflict between alleles and modifiers in the evolution of genetic polymorphisms - PowerPoint PPT Presentation. ... when do the alleles and modifiers agree? If the dimensions of phenotypic and allelic spaces are n resp. m, then ... in reality alleles and modifiers will both evolve the mutation probability per haplotype per birth, the covariances of the ...
slideserve.com/chapa/conflict-between-alleles-and-modifiers-in-the-evolution-of-genetic-polymorphisms

*  The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles -...

The most prevalent mutation was the well defined splicing error in intron 10, c.1066-11G,A (17/68 alleles). The three ... The most prevalent mutation was the well defined splicing error in intron 10, c.1066-11G,A (17/68 alleles). The three ... The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles ... we identified two mutant alleles in 23 PKU patients, three mutations in 1, only one mutation in 5, and no mutation in 5 PKU ...
zora.uzh.ch/id/eprint/57019/

*  Associations of erosive arthritis with anti-cyclic citrullinated peptide antibodies and MHC Class II alleles in systemic lupus...

Associations of erosive arthritis with anti-cyclic citrullinated peptide antibodies and MHC Class II alleles in systemic lupus ... Associations of erosive arthritis with anti-cyclic citrullinated peptide antibodies and MHC Class II alleles in systemic lupus ...
opus.bath.ac.uk/27490/

*  Fitness costs associated with evolved herbicide resistance alleles in plants - WRAP: Warwick Research Archive Portal

2009) Fitness costs associated with evolved herbicide resistance alleles in plants. New Phytologist, Vol.184 (No.4). pp. 751- ... Predictions based on evolutionary theory suggest that the adaptive value of evolved herbicide resistance alleles may be ... There have been many studies quantifying the fitness costs associated with novel herbicide resistance alleles, reflecting the ... Second, to present a comprehensive analysis of the literature on fitness costs associated with herbicide resistance alleles. ...
wrap.warwick.ac.uk/2253/

*  Rare variants as low-penetrance risk alleles for colorectal cancer | The Family History of Bowel Cancer Clinic

Rare variants as low-penetrance risk alleles for colorectal cancer. Posted by kjmonahan ⋅ September 4, 2012. ⋅ 1 Comment ... Rare variants as low-penetrance alleles. Rare variants will not be detectable by population association studies based on the ...
https://familyhistorybowelcancer.wordpress.com/2012/09/04/rare-variants-as-low-penetrance-risk-alleles-for-colorectal-cancer/

*  Cancer Council digital library: HRAS1 rare minisatellite alleles and breast cancer in Australian women under age forty years

These studies relied on visual sizing of alleles on electrophoretic gels and may have underreported rare alleles. We determined ... HRAS1 rare minisatellite alleles and breast cancer in Australian women under age forty years. ... RESULTS: We found no association of rare alleles with breast cancer, before or after adjustment for risk factors and ... IMPLICATIONS: The question of whether cancer risk is associated with rare minisatellite HRAS1 alleles needs to be revisited ...
researchpubs.cancercouncil.com.au/cancercounciljspui/handle/1/1361

*  Molecular characterization of major histocompatibility complex class II alleles in the common frog, Rana temporaria : Sussex...

Five or six alleles were detected in each population with a maximum of two alleles per individual, indicating that only a ... Zeisset, I and Beebee, T J C (2009) Molecular characterization of major histocompatibility complex class II alleles in the ... We genotyped this locus in five frog populations in southeast England and detected eight alleles in 215 individuals. ... Molecular characterization of major histocompatibility complex class II alleles in the common frog, Rana temporaria ...
sro.sussex.ac.uk/15351/

*  The role of HLA-DPB1 alleles on outcome of hematopoietic stem cell transplantation from unrelated donor - Faculty of Science...

HLA alleles were tested by Polymerase Chain Reaction and specific primers or probes (PCR-SSP and PCR-SSO methods). Among all ... For the final conclusion about the necessity of matching for HLA-DPB1 alleles it is required to enlarge the number of studies. ... Grba, Adriana (2014) The role of HLA-DPB1 alleles on outcome of hematopoietic stem cell transplantation from unrelated donor. ... The distribution of DPB1 alleles in the group of patients, unrelated donors and healthy controls was compared. The next goal ...
digre.pmf.unizg.hr/3252/

*  Negative selection on BRCA1 susceptibility alleles sheds light on the population genetics of late-onset diseases and aging...

This finding may explain the distribution of BRCA1 alleles' frequency, and also why alleles for many late-onset diseases, like ... It is therefore timely to estimate selection on these alleles. Here, we estimate selection on BRCA1 alleles leading to ... We then explore the magnitude of negative selection on alleles leading to a diverse range of risk patterns, to capture a ... We show that BRCA1 alleles may have been under significant negative selection during human history. Although the mean age of ...
https://neuroscience.ox.ac.uk/publications/314548

*  ENSDARG00000037537 - Zebrafish Mutation Project - Wellcome Trust Sanger Institute

Alleles. There are 3 alleles of this gene:. Allele name. Consequence. Status. Availability Estimate. ...
sanger.ac.uk/sanger/Zebrafish_Zmpgene/ENSDARG00000037537

*  ENSDARG00000019902 - Zebrafish Mutation Project - Wellcome Trust Sanger Institute

Alleles. There is 1 allele of this gene:. Allele name. Consequence. Status. Availability Estimate. ...
sanger.ac.uk/sanger/Zebrafish_Zmpgene/ENSDARG00000019902

*  Ppara peroxisome proliferator activated receptor alpha [Mus musculus (house mouse)] - Gene - NCBI

Alleles Alleles of this type are documented at Mouse Genome Informatics (MGI) ...
https://ncbi.nlm.nih.gov/gene?LinkName=pubmed_gene&from_uid=16054054

Infinite alleles model: The infinite alleles model is a mathematical model for calculating genetic mutations. The Japanese geneticist Motoo Kimura and American geneticist James F.Gene polymorphismWGAViewer: WGAViewer is a bioinformatics software tool which is designed to visualize, annotate, and help interpret the results generated from a genome wide association study (GWAS). Alongside the P values of association, WGAViewer allows a researcher to visualize and consider other supporting evidence, such as the genomic context of the SNP, linkage disequilibrium (LD) with ungenotyped SNPs, gene expression database, and the evidence from other GWAS projects, when determining the potential importance of an individual SNP.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Genetic variation: right|thumbColes PhillipsSymmetry element: A symmetry element is a point of reference about which symmetry operations can take place. In particular, symmetry elements can be centers of inversion, axes of rotation and mirror planes.Thermal cyclerChromosome regionsDisequilibrium (medicine): Disequilibrium}}Microsatellite: A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 2–5 base pairs) are repeated, typically 5-50 times. Microsatellites occur at thousands of locations in the human genome and they are notable for their high mutation rate and high diversity in the population.Nested case-control study: A nested case control (NCC) study is a variation of a case-control study in which only a subset of controls from the cohort are compared to the incident cases. In a case-cohort study, all incident cases in the cohort are compared to a random subset of participants who do not develop the disease of interest.Amplified fragment length polymorphismPanmixia: Panmixia (or panmixis) means random mating.King C and Stanfield W.DNA sequencer: A DNA sequencer is a scientific instrument used to automate the DNA sequencing process. Given a sample of DNA, a DNA sequencer is used to determine the order of the four bases: G (guanine), C (cytosine), A (adenine) and T (thymine).Protein primary structure: The primary structure of a peptide or protein is the linear sequence of its amino acid structural units, and partly comprises its overall biomolecular structure. By convention, the primary structure of a protein is reported starting from the amino-terminal (N) end to the carboxyl-terminal (C) end.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Genetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Alternative splicing: Alternative splicing is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.HLA-DQ: HLA-DQ (DQ) is a cell surface receptor protein found on antigen presenting cells. It is an αβ heterodimer of type MHC Class II.Selection (relational algebra): In relational algebra, a selection (sometimes called a restriction to avoid confusion with SQL's use of SELECT) is a unary operation written asIridogoniodysgenesis, dominant type: Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells.OpsismodysplasiaSuppressor mutation: A suppressor mutation is a second mutation that alleviates or reverts the phenotypic effects of an already existing mutation. Genetic suppression therefore restores the phenotype seen prior to the original background mutation.Point mutationDNA condensation: DNA condensation refers to the process of compacting DNA molecules in vitro or in vivo. Mechanistic details of DNA packing are essential for its functioning in the process of gene regulation in living systems.Recombination (cosmology): In cosmology, recombination refers to the epoch at which charged electrons and protons first became bound to form electrically neutral hydrogen atoms.Note that the term recombination is a misnomer, considering that it represents the first time that electrically neutral hydrogen formed.Multiple Loci VNTR Analysis: Multiple Loci VNTR Analysis (MLVA ) is a method employed for the genetic analysis of particular microorganisms, such as pathogenic bacteria, that takes advantage of the polymorphism of tandemly repeated DNA sequences. A "VNTR" is a "variable-number tandem repeat".Deletion (genetics)Missense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.GC box: In molecular biology, a GC box is a distinct pattern of nucleotides found in the promoter region of some eukaryotic genes upstream of the TATA box and approximately 110 bases upstream from the transcription initiation site. It has a consensus sequence GGGCGG which is position dependent and orientation independent.QRISK: QRISK2 (the most recent version of QRISK) is a prediction algorithm for cardiovascular disease (CVD) that uses traditional risk factors (age, systolic blood pressure, smoking status and ratio of total serum cholesterol to high-density lipoprotein cholesterol) together with body mass index, ethnicity, measures of deprivation, family history, chronic kidney disease, rheumatoid arthritis, atrial fibrillation, diabetes mellitus, and antihypertensive treatment.Population stratification: Population stratification is the presence of a systematic difference in allele frequencies between subpopulations in a population possibly due to different ancestry, especially in the context of association studies. Population stratification is also referred to as population structure, in this context.Intron: right|thumbnail|270px|Representation of intron and [[exons within a simple gene containing a single intron.]]Ligation-independent cloning: Ligation-independent cloning (LIC) is a form of molecular cloning that is able to be performed without the use of restriction endonucleases or DNA ligase. This allows genes that have restriction sites to be cloned without worry of chopping up the insert.Zuotin: Z-DNA binding protein 1, also known as Zuotin, is a Saccharomyces cerevisiae yeast gene.Indy (gene): Indy, short for I'm not dead yet, is a gene of the model organism, the fruit fly Drosophila melanogaster. Mutant versions of this gene have doubled the average life span of fruit flies in at least one set of experiments, but this result has been subject to controversy.HLA B7-DR15-DQ6Branching order of bacterial phyla (Gupta, 2001): There are several models of the Branching order of bacterial phyla, one of these was proposed in 2001 by Gupta based on conserved indels or protein, termed "protein signatures", an alternative approach to molecular phylogeny. Some problematic exceptions and conflicts are present to these conserved indels, however, they are in agreement with several groupings of classes and phyla.Layout of the Port of Tianjin: The Port of Tianjin is divided into nine areas: the three core (“Tianjin Xingang”) areas of Beijiang, Nanjiang, and Dongjiang around the Xingang fairway; the Haihe area along the river; the Beitang port area around the Beitangkou estuary; the Dagukou port area in the estuary of the Haihe River; and three areas under construction (Hanggu, Gaoshaling, Nangang).Molecular evolution: Molecular evolution is a change in the sequence composition of cellular molecules such as DNA, RNA, and proteins across generations. The field of molecular evolution uses principles of evolutionary biology and population genetics to explain patterns in these changes.HLA-A: HLA-A is a group of human leukocyte antigens (HLA) that are coded for by the HLA-A locus, which is located at human chromosome 6p21.3.Single-strand conformation polymorphism: Single-strand conformation polymorphism (SSCP), or single-strand chain polymorphism, is defined as conformational difference of single-stranded nucleotide sequences of identical length as induced by differences in the sequences under certain experimental conditions. This property allows sequences to be distinguished by means of gel electrophoresis, which separates fragments according to their different conformations.DNA-binding proteinPituitary-specific positive transcription factor 1: POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1), also known as POU1F1, is a transcription factor for growth hormone.HLA-C: HLA-C belongs to the MHC (human = HLA) class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin.Signature-tagged mutagenesis: Signature-tagged mutagenesis (STM) is a genetic technique used to study gene function. Recent advances in genome sequencing have allowed us to catalogue a large variety of organisms' genomes, but the function of the genes they contain is still largely unknown.Copy number analysis: Copy number analysis usually refers to the process of analyzing data produced by a test for DNA copy number variation in patient's sample. Such analysis helps detect chromosomal copy number variation that may cause or may increase risks of various critical disorders.Mature messenger RNA: Mature messenger RNA, often abbreviated as mature mRNA is a eukaryotic RNA transcript that has been spliced and processed and is ready for translation in the course of protein synthesis. Unlike the eukaryotic RNA immediately after transcription known as precursor messenger RNA, it consists exclusively of exons, with all introns removed.Southern corn leaf blight: Southern corn leaf blight (SCLB) is a fungal disease of maize caused by the plant pathogen Bipolaris maydis (also known as Cochliobolus heterostrophus in its teleomorph state).CIITA: CIITA is a human gene which encodes a protein called the class II, major histocompatibility complex, transactivator. Mutations in this gene are responsible for the bare lymphocyte syndrome in which the immune system is severely compromised and cannot effectively fight infection.Trinucleotide repeat disorder: Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, triplet repeat expansion disorders or codon reiteration disorders) are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where [repeats in certain gene]s exceed the normal, stable threshold, which differs per gene. The mutation is a subset of unstable [[Microsatellite (genetics)|microsatellite repeats that occur throughout all genomic sequences.BESS domain: In molecular biology, the BESS domain is a protein domain which has been named after the three proteins that originally defined the domain: BEAF (Boundary element associated factor 32), Suvar(3)7 and Stonewall ). The BESS domain is 40 amino acid residues long and is predicted to be composed of three alpha helices, as such it might be related to the myb/SANT HTH domain.Frameshift mutation: A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three. Due to the triplet nature of gene expression by codons, the insertion or deletion can change the reading frame (the grouping of the codons), resulting in a completely different translation from the original.CS-BLASTUniparental inheritance: Uniparental inheritance is a non-mendelian form of inheritance that consists of the transmission of genotypes from one parental type to all progeny. That is, all the genes in offspring will originate from only the mother or only the father.

(1/28798) Standardized nomenclature for inbred strains of mice: sixth listing.

Rules for designating inbred strains of mice are presented, along with a list of strains with their origins and characteristics, a table of biochemical polymorphisms, and standard subline designations.  (+info)

(2/28798) Lack of genic similarity between two sibling species of drosophila as revealed by varied techniques.

Acrylamide gel electrophoresis was performed on the enzyme xanthine dehydrogenase in sixty isochromosomal lines of Drosophila persimilis from three geographic populations. Sequential electrophoretic analysis using varied gel concentrations and buffers revealed twenty-three alleles in this species where only five had been described previously. These new electrophoretic techniques also detected a profound increase in divergence of gene frequencies at this locus between D. persimilis and its sibling species D. pseudoobscura. The implications of these results for questions of speciation and the maintenance of genetic variability are discussed.  (+info)

(3/28798) Genetic heterogeneity within electrophoretic "alleles" of xanthine dehydrogenase in Drosophila pseudoobscura.

An experimental plan for an exhaustive determination of genic variation at structural gene loci is presented. In the initial steps of this program, 146 isochromosomal lines from 12 geographic populations of D. pseudoobscura were examined for allelic variation of xanthine dehydrogenase by the serial use of 4 different electrophoretic conditions and a head stability test. The 5 criteria revealed a total of 37 allelic classes out of the 146 genomes examined where only 6 had been previously revealed by the usual method of gel electrophoresis. This immense increase in genic variation also showed previously unsuspected population differences between the main part of the species distribution and the isolated population of Bogota population. The average heterozygosity at the Xdh locus is at least 72% in natural populations. This result, together with the very large number of alleles segregating and the pattern of allelic frequencies, has implications for theories of genetic polymorphism which are discussed.  (+info)

(4/28798) An overview of the evolution of overproduced esterases in the mosquito Culex pipiens.

Insecticide resistance genes have developed in a wide variety of insects in response to heavy chemical application. Few of these examples of adaptation in response to rapid environmental change have been studied both at the population level and at the gene level. One of these is the evolution of the overproduced esterases that are involved in resistance to organophosphate insecticides in the mosquito Culex pipiens. At the gene level, two genetic mechanisms are involved in esterase overproduction, namely gene amplification and gene regulation. At the population level, the co-occurrence of the same amplified allele in distinct geographic areas is best explained by the importance of passive transportation at the worldwide scale. The long-term monitoring of a population of mosquitoes in southern France has enabled a detailed study to be made of the evolution of resistance genes on a local scale, and has shown that a resistance gene with a lower cost has replaced a former resistance allele with a higher cost.  (+info)

(5/28798) Detailed methylation analysis of the glutathione S-transferase pi (GSTP1) gene in prostate cancer.

Glutathione-S-Transferases (GSTs) comprise a family of isoenzymes that provide protection to mammalian cells against electrophilic metabolites of carcinogens and reactive oxygen species. Previous studies have shown that the CpG-rich promoter region of the pi-class gene GSTP1 is methylated at single restriction sites in the majority of prostate cancers. In order to understand the nature of abnormal methylation of the GSTP1 gene in prostate cancer we undertook a detailed analysis of methylation at 131 CpG sites spanning the promoter and body of the gene. Our results show that DNA methylation is not confined to specific CpG sites in the promoter region of the GSTP1 gene but is extensive throughout the CpG island in prostate cancer cells. Furthermore we found that both alleles are abnormally methylated in this region. In normal prostate tissue, the entire CpG island was unmethylated, but extensive methylation was found outside the island in the body of the gene. Loss of GSTP1 expression correlated with DNA methylation of the CpG island in both prostate cancer cell lines and cancer tissues whereas methylation outside the CpG island in normal prostate tissue appeared to have no effect on gene expression.  (+info)

(6/28798) Identification of DNA polymorphisms associated with the V type alpha1-antitrypsin gene.

alpha1-Antitrypsin (alpha1-AT) is a highly polymorphic protein. The V allele of alpha1-AT has been shown to be associated with focal glomerulosclerosis (FGS) in Negroid and mixed race South African patients. To identify mutations and polymorphisms in the gene for the V allele of alpha1-AT in five South African patients with FGS nephrotic syndrome DNA sequence analysis and restriction fragment length polymorphisms of the coding exons were carried out. Four of the patients were heterozygous for the BstEII RFLP in exon III [M1(Val213)(Ala213)] and one patient was a M1(Ala213) homozygote. The mutation for the V allele was identified in exon II as Gly-148 (GGG)-->Arg (AGG) and in all patients was associated with a silent mutation at position 158 (AAC-->AAT). The patient who was homozygous for (Ala213) also had a silent mutation at position 256 in exon III (GAT-->GAC) which was not present in any of the other four patients. Although the V allele of alpha1-AT is not associated with severe plasma deficiency, it may be in linkage disequilibrium with other genes on chromosome 14 that predispose to FGS. Furthermore, the associated silent mutation at position 158 and the Ala213 polymorphism are of interest, as these could represent an evolutionary intermediate between the M1(Ala213) and M1(Val213) subtypes.  (+info)

(7/28798) The alphaE-catenin gene (CTNNA1) acts as an invasion-suppressor gene in human colon cancer cells.

The acquisition of invasiveness is a crucial step in the malignant progression of cancer. In cancers of the colon and of other organs the E-cadherin/catenin complex, which is implicated in homotypic cell-cell adhesion as well as in signal transduction, serves as a powerful inhibitor of invasion. We show here that one allele of the alphaE-catenin (CTNNA1) gene is mutated in the human colon cancer cell family HCT-8, which is identical to HCT-15, DLD-1 and HRT-18. Genetic instability, due to mutations in the HMSH6 (also called GTBP) mismatch repair gene, results in the spontaneous occurrence of invasive variants, all carrying either a mutation or exon skipping in the second alphaE-catenin allele. The alphaE-catenin gene is therefore, an invasion-suppressor gene in accordance with the two-hit model of Knudsen for tumour-suppressor genes.  (+info)

(8/28798) Correlation between the status of the p53 gene and survival in patients with stage I non-small cell lung carcinoma.

The association of p53 abnormalities with the prognosis of patients with non-small cell lung carcinoma (NSCLC) has been extensively investigated to date, however, this association is still controversial. Therefore, we investigated the prognostic significance of p53 mutations through exons 2 to 11 and p53 protein expression in 103 cases of stage I NSCLC. p53 mutations were detected in 49 of 103 (48%) tumors. Two separate mutations were detected in four tumors giving a total of 53 unique mutations in 49 tumors. Ten (19%) of mutations occurred outside exons 5-8. Positive immunohistochemical staining of p53 protein was detected in 41 of 103 (40%) tumors. The concordance rate between mutations and protein overexpression was only 69%. p53 mutations, but not expression, were significantly associated with a shortened survival of patients (P<0.001). Furthermore, we investigated the correlation between the types of p53 mutations and prognosis. p53 missense mutations rather than null mutations were associated with poor prognosis (P < 0.001 in missense mutations and P=0.243 in null mutations). These results indicated that p53 mutations, in particular missense mutations, rather than p53 expression could be a useful molecular marker for the prognosis of patients with surgically resected stage I NSCLC.  (+info)



rare alleles


  • This method takes advantage of the heterogeneous in-frame alleles produced following Cas9-mediated DNA cleavage, which we show can generate rare alleles that confer resistance to the growth-arrest caused by chemical inhibitors. (sigmaaldrich.com)
  • These studies relied on visual sizing of alleles on electrophoretic gels and may have underreported rare alleles. (cancercouncil.com.au)

gene


  • In general, individual cells express both the maternal and the paternal copies, or alleles, of a given gene. (genengnews.com)
  • Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. (jci.org)
  • By analyzing all 13 exons plus exon-intron boundaries of the PAH gene, we identified two mutant alleles in 23 PKU patients, three mutations in 1, only one mutation in 5, and no mutation in 5 PKU patients. (uzh.ch)

locus


  • BACKGROUND: A recent meta-analysis of 23 studies supported the empirically derived hypothesis that women who lack one of the four common minisatellite alleles at the HRAS1 locus are at increased risk of breast cancer. (cancercouncil.com.au)
  • We genotyped this locus in five frog populations in southeast England and detected eight alleles in 215 individuals. (sussex.ac.uk)
  • Five or six alleles were detected in each population with a maximum of two alleles per individual, indicating that only a single locus was amplified. (sussex.ac.uk)

Allele


  • Both nonsense mutations markedly reduced the levels of insulin receptor mRNA transcribed from the alleles with the nonsense mutation as compared to the transcripts from the other allele. (jci.org)

novel


  • We used this approach to identify novel resistance alleles of two lysine methyltransferases, DOT1L and EZH2, which are each essential for the growth of MLL-fusion leukemia cells. (sigmaaldrich.com)
  • These findings validate the on-target anti-leukemia activities of existing DOT1L and EZH2 inhibitors and reveal a simple method for deriving drug-resistance alleles for novel targets, which may have utility during early stages of drug development. (sigmaaldrich.com)
  • There have been many studies quantifying the fitness costs associated with novel herbicide resistance alleles, reflecting the importance of fitness costs in determining the evolutionary dynamics of resistance. (warwick.ac.uk)

mutations


  • However, these resistance fitness costs are not universal and their expression depends on particular plant alleles and mutations. (warwick.ac.uk)

Disease Progression


  • Objective: To examine the effects of human leukocyte antigen ( HLA) alleles on HIV-1-related disease progression and central nervous system (CNS) impairment in children. (lww.com)
  • Conclusions: Presence of B-27 , Cw-2 , or DQB1-2 alleles was associated with delayed HIV-1 disease progression, while B-27 , A-24 , and DQB1-2 alleles were associated with altered progression to CNS impairment in children. (lww.com)

genetic


  • Wt1-based Cre alleles are useful tools for genetic lineage tracing of epicardial cells and mesothelium of other organs. (ahajournals.org)

population


  • High-resolution HLA alleles and haplotypes in the United States population. (omicsonline.org)

effects


  • Weighted Kaplan-Meier methods, and Cox proportional hazards models were used to assess the effects of HLA alleles on study endpoints. (lww.com)
  • This analysis reveals unquestionable evidence that some herbicide resistance alleles are associated with pleiotropic effects that result in plant fitness costs. (warwick.ac.uk)
  • CONCLUSION: There was no support for an association between rare HRAS1 alleles and the risk of early-onset breast cancer, despite 80% power to detect effects of the magnitude of those associations (1.7-fold) previously suggested. (cancercouncil.com.au)

patients


  • The distribution of DPB1 alleles in the group of patients, unrelated donors and healthy controls was compared. (unizg.hr)

method


  • We determined whether this hypothesis applied to early-onset breast cancer by using a new method to size minisatellite alleles. (cancercouncil.com.au)

Research


  • In this Research Commentary, we refine some of the observations made in this study and add additional data on the properties of Wt1-based Cre alleles. (ahajournals.org)

Risk


  • HLA Alleles are Associated With Altered Risk for Disease Pro. (lww.com)

studies


  • Studies of epicardium have been facilitated by development of Cre alleles that permit selective labeling and isolation of epicardial cells and their derivatives. (ahajournals.org)
  • For the final conclusion about the necessity of matching for HLA-DPB1 alleles it is required to enlarge the number of studies. (unizg.hr)