MutationMismatch RepairTandemHuntington'sLociGenomeHaplotypesAllelesDiseasesCandidate genesPutativeGenomicNeurologicalGeneticTandemly repeatedSequencesNucleotideChromosomeSequenceRepetitiveDevelopmentalMutationalPopulationsMarkersEncodesWhole exomeProteinPlantExpressionPresentOccurStudyShowFoundUnitsStudiesEnvironment
Mutation9
- For instance, if you've got a mutation caused by triplet repeat expansion, for instance in the Huntington's gene, where the trinucleotide repeats a CAG, you might have 17 CAGs in a normal chromosome. (hstalks.com)
- Some occur in the coding region of the gene, others occur in the five prime region and others occur in the three prime region, and these have different consequences on the function of the gene and the results of the mutation. (hstalks.com)
- Indeed, mutation detection enhancement gel electrophoresis of mixed PCR products from cloned haplotypes revealed 24 distinct heteroduplex patterns for the six possible trinucleotide heterozygotes. (scite.ai)
- from the mutation of a single gene. (scirp.org)
- YBM12-A and YBM12-B). This mutation in leaf color is controlled by a single dominant nuclear gene. (geneticsmr.com)
- Huntington's disease (HD) is an autosomal dominant progressive neurodegenerative disorder caused by a dynamic mutation due to the expansion of CAG repeats in the HTT gene (4p16.3). (geneticsmr.com)
- METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
- 2005) identified a mutation in the APP gene (104760.0019). (findzebra.com)
- This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. (findzebra.com)
Mismatch Repair1
- The process of DNA mismatch repair plays a prominent role in the formation of direct trinucleotide repeat expansions. (wikipedia.org)
Tandem8
- Tandem repeats (tandem repeat sequences) are repeated copies which lie adjacent to each other. (wikipedia.org)
- Thus direct repeat tandem sequences are a form of microsattelite DNA. (wikipedia.org)
- Short tandem repeats (STRs) compose approximately 3% of the genome, and mutations at STR loci have been linked to dozens of human diseases including amyotrophic lateral sclerosis, Friedreich ataxia, Huntington disease, and fragile X syndrome. (biomedcentral.com)
- Short tandem repeats (STRs), or microsatellites, are 1-6 base pair (bp) motifs of repeating units of DNA. (biomedcentral.com)
- We searched the expressed sequence tag databank for reiterated trinucleotides and selected EST00493 (D2S196E) with 14 tandem ACA triplets as a potentially polymorphic locus. (scite.ai)
- Short tandem repeats (STRs) are widely present in the human genome. (researchsquare.com)
- Short tandem repeats (STRs), also known as microsatellites, are repetitive DNA sequences consisting of 1-6-bp motifs present in a genome. (researchsquare.com)
- of tandem repeats within their genomes [6, 17]. (scirp.org)
Huntington's1
- REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review. (geneticsmr.com)
Loci4
- Some of these tools are designed to detect STR expansions at disease-related loci, while others detect expansions and contractions of STRs genome-wide but are constrained by sequencing read length and the STR motif size. (biomedcentral.com)
- These highly individual-specific number of repeats and the abundance of motifs have contributed to the polymorphism of STR loci. (researchsquare.com)
- On average, STR loci occur every 15 kb in the human genome. (researchsquare.com)
- The final consensus maps are based on 1578 microsatellite loci and these maps have a cumulative length of approximately 1400 cM after adjustment for recombination frequencies of RI strains. (nervenet.org)
Genome6
- In other words, the direct repeats are nucleotide sequences present in multiple copies in the genome. (wikipedia.org)
- There are several types of repeated sequences : Interspersed (or dispersed) DNA repeats (interspersed repetitive sequences) are copies of transposable elements interspersed throughout the genome. (wikipedia.org)
- In directly repeated sequences of the tobacco plant genome, DNA double-strand breaks can be efficiently repaired by homologous recombination between the repeated sequences. (wikipedia.org)
- Siebert R, Puchta H. Efficient repair of genomic double-strand breaks by homologous recombination between directly repeated sequences in the plant genome. (wikipedia.org)
- human whole-genome. (scirp.org)
- This provided an unprecedented opportunity to examine somatic mutational patterns by sequencing multiple cancer-associated genes, by sequencing all coding regions of the human genome (i.e., usually referred to as whole-exome sequencing), or even by interrogating the complete sequence of a cancer genome (i.e., an approach known as whole-genome sequencing). (biomedcentral.com)
Haplotypes1
- Sequencing of their polymerase chain reaction (PCR) products revealed a G-->A transition immediately preceding the trinucleotide repeats, hence defining 8 distinct haplotypes and 36 possible genotypes. (scite.ai)
Alleles4
- Size variation was readily detected, with four common alleles containing 12-15 repeats. (scite.ai)
- The considered normal alleles have less than 27 CAG repeats. (geneticsmr.com)
- Intermediate alleles (IAs) show 27 to 35 CAG repeats and expanded alleles have more than 35 repeats. (geneticsmr.com)
- multiple alleles at qtl allow the examination of interaction among alleles at qtl (deviation from additive gene action). (liverpool.ac.uk)
Diseases3
- Today I'm going to tell you about microsatellites, and trinucleotide repeat expansions diseases. (hstalks.com)
- These diseases are all caused by microsatellite mutations, where a microsatellite either has three bases, four bases, five bases, or six bases, and these mutations result in excess numbers of copy of these particular units. (hstalks.com)
- Long expansions of transcribed trinucleotide microsatellites have been etiologically associated with some neurological diseases. (scite.ai)
Candidate genes2
- Next-generation sequencing of the whole exome is useful for testing for multiple candidate genes simultaneously or for discovering new, rare disorders. (medlink.com)
- The first stage involved identifying, in unrelated subjects showing linkage to 2q24-q33, genetic variants in exons and flanking sequence within candidate genes and comparing the frequency of the variants between autistic and unrelated nonautistic subjects. (neurotransmitter.net)
Putative1
- in contrast to simple family structures reported for a variety of angiosperm nsltp genes, the putative pine nsltp gene is a member of a complex family. (liverpool.ac.uk)
Genomic1
- two genes preferentially expressed in differentiating xylem of loblolly pine (pinus taeda l.) were cloned from cdna and genomic libraries and designated ptx3h6 and ptx14a9. (liverpool.ac.uk)
Neurological1
- Such repeat expansions underlie several neurological and developmental disorders in humans. (wikipedia.org)
Genetic6
- Direct repeats are a type of genetic sequence that consists of two or more repeats of a specific sequence. (wikipedia.org)
- Diversity and genetic stability in banana genotypes in a breeding program using inter simple sequence repeats (ISSR) markers. (geneticsmr.com)
- The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
- The natural populations from China with specific genetic characteristics enriched the gene pools of global A. thaliana collections. (biomedcentral.com)
- Epigenetics broadly is a heritable genetic characteristic that is a cell-specific gene expression and regulation achieved by the interaction between DNA and transcriptional factors. (geneticeducation.co.in)
- genetic analysis of cinnamyl alcohol dehydrogenase in loblolly pine: single gene inheritance, molecular characterization and evolution. (liverpool.ac.uk)
Tandemly repeated1
- A tract of repetitive DNA in which a motif of a few base pairs is tandemly repeated numerous times (e.g. 5 to 50 times) is referred to as microsatellite DNA. (wikipedia.org)
Sequences1
- Flanking (or terminal) repeats (terminal repeat sequences) are sequences that are repeated on both ends of a sequence, for example, the long terminal repeats (LTRs) on retroviruses. (wikipedia.org)
Nucleotide2
- The nucleotide sequence written in bold characters signifies the repeated sequence. (wikipedia.org)
- Two single nucleotide polymorphisms (SNPs) that showed evidence for divergent distribution between autistic and nonautistic subjects were identified, both within SLC25A12, a gene encoding the mitochondrial aspartate/glutamate carrier (AGC1). (neurotransmitter.net)
Chromosome1
- But in a diseased chromosome, you might have 40 successive copies of CAG trinucleotides in the gene. (hstalks.com)
Sequence2
- Generally, a direct repeat occurs when a sequence is repeated with the same pattern downstream. (wikipedia.org)
- The observation of heteroduplex patterns in non-denaturing polyacrylamide gel electrophoresis (instead of the more commonly used denaturing gels) can thus be utilized to increase the informativeness of microsatellite polymorphisms by unraveling otherwise cryptic sequence variation. (scite.ai)
Repetitive1
- citation needed] The ribosomal RNA and transfer RNA genes belong to the class of middle repetitive DNA. (wikipedia.org)
Developmental1
- the gene encoding the monolignol biosynthetic enzyme cinnamyl alcohol dehydrogenase (cad, e.c. 1.1.1.195) can be expressed in response to different developmental and environmental cues. (liverpool.ac.uk)
Mutational1
- Analysis of somatic mutational patterns is a powerful tool for understanding the etiology of human cancers [ 1 ]. (biomedcentral.com)
Populations3
- In contrast, interactions between genes and the environment cannot usually be studied using conventional mapping populations in which each animal is unique. (nervenet.org)
- We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
- These populations originated from a common ancestor, and a rapid demographic expansion began approximately 90,000 years ago. (biomedcentral.com)
Markers1
- In this study we have increased the density of microsatellite markers 2- to 5-fold in each of several major RI sets that share C57BL/6 as a parental strain (AXB, BXA, BXD, BXH, and CXB). (nervenet.org)
Encodes2
- These guarantee onset of early-onset familial Alzheimer disease and all occur in the region of the APP gene that encodes the Aβ domain. (findzebra.com)
- The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)
Whole exome1
- Whole exome sequencing is not suitable for detecting polynucleotide repeat disorders or large insertion/deletions. (medlink.com)
Protein2
- It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues. (lookformedical.com)
- lipid transfer protein genes of loblolly pine are members of a complex gene family. (liverpool.ac.uk)
Plant1
- CRISPR-CAS9 is a system of gene editing (precisely, the precise/specific gene-editing tool) having lucrative applications in medical research, diagnostics, animal research, plant and agriculture science. (geneticeducation.co.in)
Expression2
- control of cad gene expression could involve either differential regulation of more than one cad gene or, alternatively combinatorial regulation of a single cad gene. (liverpool.ac.uk)
- xylem-specific gene expression in loblolly pine. (liverpool.ac.uk)
Present2
- In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
- The present technology has actually infinite potential applications and scientists are doing it, expanding its use in diverse fields, for example, manipulating or controlling gene expressions. (geneticeducation.co.in)
Occur2
- What this slide shows is that these types of mutations can occur in various parts of the gene. (hstalks.com)
- An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. (lookformedical.com)
Study1
- Participants from the baseline of the Bambuí Health Aging Study whose ApoE genes had been genotyped were selected for this study (N = 1406, aged 60-95 years). (scite.ai)
Show1
- In addition, 437 genes show DNAm aberrance status in high TMB patient group and 99 have been reported as its association with lung cancer. (biomedcentral.com)
Found1
- Negative association findings and research involving the serotonin transporter gene, FMR1, RELN, WNT2, HOXA1, and HOXB1 genes may be found elsewhere on this site . (neurotransmitter.net)
Units1
- The number of repeat units differs between individuals, resulting in highly complex allele polymorphisms. (researchsquare.com)
Studies1
- Apolipoprotein E (ApoE) is one of the most extensively studied genes in the context of aging, but there are few population-based studies on ApoE polymorphism in the elderly in developing countries. (scite.ai)
Environment1
- RI strains can therefore be exploited to expose gene-environment interactions. (nervenet.org)