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)
Genome4
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)
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)
We report these two new plastid genome sequences and make comparisons (within angiosperms, seed plants, or all photosynthetic lineages) to evaluate features such as the status of ycf15 and ycf68 as protein coding genes, the distribution of simple sequence repeats (SSRs) and longer dispersed repeats (SDR), and patterns of nucleotide composition. (biomedcentral.com)
In the majority of angiosperm chloroplast genomes two copies of a large inverted repeat (IR) of about 25 kb separate the remainder of the genome into two regions of unique DNA, the large (about 90 kb) and small (about 20 kb) single copy regions (LSC and SSC, respectively). (biomedcentral.com)
Mutations4
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)
What this slide shows is that these types of mutations can occur in various parts of the gene. (hstalks.com)
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)
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
Loci4
citation needed] If one or more genes cannot be expressed because of another genetic factor hindering their expression, this epistasis can make it impossible even for dominant alleles on certain other gene-loci to have an effect on the phenotype. (wikipedia.org)
These highly individual-specific number of repeats and the abundance of motifs have contributed to the polymorphism of STR loci. (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)
Genetic correlations between loci on different chromosomes can be high and can generate false positive linkage. (nervenet.org)
Motifs2
In broader comparisons, SSRs vary among genomes in terms of abundance and length and most contain repeat motifs based on A and T nucleotides. (biomedcentral.com)
SSRs occur less frequently than predicted and, although the majority of the repeat motifs do include A and T nucleotides, the A+T bias in SSRs is less than that predicted from the underlying genomic nucleotide composition. (biomedcentral.com)
Nucleotide1
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)
Mutation4
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)
The mechanisms by which genetic variants result in loss of protein function are many and variable, and include large-scale genomic deletions that can involve multiple genes, down to smaller single-exon deletions that may result in the protein reading frame being shifted and a truncated protein, or an in-frame loss of protein sequence. (hstalks.com)
Genomes3
Genomes of individuals strains typically incorporate 45-55 recombinations between parental chromosomes. (nervenet.org)
The Nuphar [GenBank:NC_008788] and Ranunculus [GenBank:NC_008796] plastid genomes share characteristics of gene content and organization with many other chloroplast genomes. (biomedcentral.com)
Like other plastid genomes, these genomes are A+T-rich, except for rRNA and tRNA genes. (biomedcentral.com)
Mendelian1
citation needed] In Mendelian inheritance, genes have only two alleles, such as a and A. Mendel consciously chose pairs of genetic traits, represented by two alleles for his inheritance experiments. (wikipedia.org)
Locus5
In cases of co-dominance, the genetic traits of both different alleles of the same gene-locus are clearly expressed in the phenotype. (wikipedia.org)
Although the allele "e" is a recessive allele on the extension-locus itself, the presence of two copies leverages the dominance of other coat colour genes. (wikipedia.org)
The results in PAR1/PAR2 are the first large-scale studies of gene dosage in these regions, and the findings at the ASMT locus indicate that further studies of the duplication of the ASMT gene are needed in order to gain insight into its potential involvement in ASD. (biomedcentral.com)
The authors recently mapped a susceptibility locus for autism to chromosome region 2q24-q33 (MIM number 606053). (neurotransmitter.net)
Variants3
Two subjects showed partial duplication of the TM4SF2 gene on Xp11.4, previously implicated in X-linked non-specific mental retardation, but in our subsequent analyses such variants were also found in controls. (biomedcentral.com)
Looking at loss-of-function variants and their role in human disease, in fact the majority of rare genetic disorders described to date result from loss-of-function pathogenic variants, that may partially or completely inactivate the gene product. (hstalks.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)
Alleles5
In nature, such genes often exist in several different forms and are therefore said to have multiple alleles. (wikipedia.org)
An individual usually has only two copies of each gene, but many different alleles are often found within a population. (wikipedia.org)
A rabbit's coat color is determined by a single gene that has at least four different alleles. (wikipedia.org)
One individual was found to carry a 12 kb deletion in one copy of the ASPA gene on 17p13, which when mutated in both alleles leads to Canavan disease. (biomedcentral.com)
Copies1
But in a diseased chromosome, you might have 40 successive copies of CAG trinucleotides in the gene. (hstalks.com)
Citation1
citation needed] When genes are located on the same chromosome and no crossing over took place before the segregation of the chromosomes into the gametes, the genetic traits will be inherited in connection, because of the genetic linkage. (wikipedia.org)
Sequences1
The pattern of evolution in the sequences identified as ycf15 and ycf68 is not consistent with them being protein-coding genes. (biomedcentral.com)
Susceptibility2
A partial duplication in the ASMT gene, located in the pseudoautosomal region 1 (PAR1) of the sex chromosomes and previously suggested to be involved in ASD susceptibility, was observed in 6-7% of the cases but in only 2% of controls (P = 0.003). (biomedcentral.com)
In the present study, genes across the 2q24-q33 interval were analyzed to identify an autism susceptibility gene in this region. (neurotransmitter.net)
Structural1
Almost every chromosome is affected by numeric or structural aberrations. (neurotransmitter.net)
Protein4
Many human genes, including one for a protein that controls cholesterol levels in the blood, show co-dominance too. (wikipedia.org)
People with the heterozygous form of this gene produce two different forms of the protein, each with a different effect on cholesterol levels. (wikipedia.org)
These disorders have in common that the associated genetic alterations result, in most cases, in altered expression or function of the protein product of the relevant gene, which then directly or indirectly leads to pathophysiological changes that result in disease. (hstalks.com)
It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues. (lookformedical.com)
Autism2
Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (neurotransmitter.net)
CONCLUSIONS: A strong association of autism with SNPs within the SLC25A12 gene was demonstrated. (neurotransmitter.net)
Present1
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)
Interaction1
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)
Study1
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)
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)
Individuals1
Mendel's principle of segregation of genes applies too, as in the F2-generation homozygous individuals with the phenotypes of the P-generation appear. (wikipedia.org)
Include1
Genes in these two novel duplications include GABRB3 and ATP10A in one case, and MKRN3 , MAGEL2 and NDN in the other. (biomedcentral.com)
Specific1
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)
Effects1
Gene effects can also be tested under a spectrum of environments and using numerous experimental perturbations. (nervenet.org)