• alleles
  • We did not find any associations between AR or VDR microsatellite lengths and breast cancer when we used a priori determined cutoffs (≤21 or ≥22 repeats for AR and ≤18 or ≥19 for VDR ) to define long and short alleles. (aacrjournals.org)
  • 20 AR CAG n repeats had an increased risk for breast cancer, odds ratio of 1.67 (95% confidence interval, 1.17-2.38), compared with those with two alleles with ≥20 repeats. (aacrjournals.org)
  • (6) reported an association between prostate cancer and AR alleles with fewer CAG repeats (relative risk, 1.52) using prostate cancer cases and age-matched controls selected from participants in the Physician's Health Study. (aacrjournals.org)
  • These associations between short AR CAG alleles and prostate cancer may be a consequence of enhanced transactivation function (7 , 8) or increased mRNA levels (9) observed in in vitro experiments using AR genes with fewer CAG repeats. (aacrjournals.org)
  • We set out to determine whether prostate cancer was linked to the AR gene and whether we could measure an effect of short AR CAG alleles on the occurrence, age of diagnosis, and/or histological grade of prostate cancer in our families. (aacrjournals.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)
  • genetic
  • They are also used in genetic linkage analysis to locate a gene or a mutation responsible for a given trait or disease. (wikipedia.org)
  • The increasing availability of DNA amplification by PCR at the beginning of the 1990s triggered a large number of studies using the amplification of microsatellites as genetic markers for forensic medicine, for paternity testing, and for positional cloning to find the gene underlying a trait or disease. (wikipedia.org)
  • To assess the genetic association of transcription factor 4 ( TCF4 ) intronic polymorphisms and CTG18.1 allele in individuals with Fuchs' endothelial corneal dystrophy (FECD) individuals from a sample Indian population. (arvojournals.org)
  • 4 , 5 So far, many genes have been attributed to cause this disease, thereby revealing its genetic complexity. (arvojournals.org)
  • Overall, our study provides a comprehensive information on cell wall related genes families in sorghum which offers a valuable resource to develop strategies for altering biomass composition by plant breeding and genetic engineering approaches. (frontiersin.org)
  • however, they are extremely useful in such fields as forensic DNA profiling and genetic linkage analysis, which can be used to search for genes involved in a wide range of disorders. (bmj.com)
  • However, when used to refer to the number of repeating units of genetic information that are sufficient to encode the blueprint for something as complex as a human being, it never ceases to amaze me that this number is big enough! (bmj.com)
  • chromosome
  • The AR 3 gene, located on chromosome Xq11-12, has been considered to be a candidate prostate cancer gene. (aacrjournals.org)
  • The example shows an exonic STR region located in the nestin ( NES ) gene on chromosome 1. (biomedcentral.com)
  • The present invention is directed to methods of detecting the presence of a bipolar mood disorder susceptibility locus in an individual, comprising analyzing a sample of DNA for the presence of a DNA polymorphism on the long arm of chromosome 18 between markers D18S469 and D18S554, wherein the DNA polymorphism is associated with a form of bipolar mood disorder. (google.com)
  • The invention for the first time provides strong evidence of a susceptibility gene for bipolar mood disorder that is located in the 18q22-q23 region of the long arm of chromosome 18. (google.com)
  • codons
  • 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. (wikipedia.org)
  • sequences
  • With a primary focus on humans, it is the aim of this review to present an up to date discussion, both of the biological aspects and scientific uses of microsatellite sequences. (bmj.com)
  • Of the remaining 70%, about four fifths comprises sequences that appear to be unique or repeated only rarely (fig 1). (bmj.com)
  • consist
  • The telomeres at the ends of the chromosomes, thought to be involved in ageing/senescence, consist of repetitive DNA, with the hexanucleotide repeat motif TTAGGG in vertebrates. (wikipedia.org)
  • susceptibility
  • To examine the potential role of the AR locus in prostate cancer susceptibility, the AR CAG repeat length was measured in 270 Caucasian men with prostate cancer from 133 unrelated families. (aacrjournals.org)
  • 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)
  • locus
  • Once specific hereditary prostate cancer genes have been identified, future studies can more carefully delineate the potential role of this AR polymorphism as a modifier locus in high-risk families. (aacrjournals.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)
  • encodes
  • The FMR1 gene encodes the Fragile X Mental Retardation Protein (FMRP) which is thought to be involved in regulating protein synthesis. (brainscape.com)
  • lengths
  • In this latter study, short AR CAG repeat lengths predisposed to higher histological grade and more advanced stage prostate cancer. (aacrjournals.org)
  • protein
  • Most (though probably not all) genes have been identified by a combination of high throughput experimental and bioinformatics approaches, yet much work still needs to be done to further elucidate the biological functions of their protein and RNA products. (wikipedia.org)
  • There are an estimated 19,000-20,000 human protein-coding genes. (wikipedia.org)
  • Complement regulatory protein genes in channel catfish and their involvement in disease defense response. (auburn.edu)
  • What protein does the FMR1 gene encode? (brainscape.com)
  • diseases
  • Although the presence of these subtle mechanisms may be beneficial to a whole population, when they go wrong, as is thought to happen in the case of human trinucleotide repeat associated diseases, such as Huntington's disease, the consequences for the individual can be fatal. (bmj.com)
  • mutation
  • A frameshift mutation is not the same as a single-nucleotide polymorphism in which a nucleotide is replaced, rather than inserted or deleted. (wikipedia.org)
  • Identification
  • Channel catfish hemoglobin genes: Identification, phylogenetic and syntenic analysis, and specific induction in response to heat stress. (auburn.edu)
  • short
  • Investigations of the relation between the AR polymorphism and breast cancer ( Table 1 ) have been conflicting, variably reporting that short repeats are associated with a decreased risk ( 14 - 18 ) or are not associated with risk ( 19 - 21 ) or are associated with decreased breast cancer survival ( 16 , 22 , 23 ). (aacrjournals.org)
  • Here we focus on a class of very short tandem repeats and their contribution to disease risk. (biomedcentral.com)
  • There are several families of interspersed repetitive DNA, although the two largest are known as short and long interspersed nuclear elements (SINEs and LINEs, respectively), 1 and it is to the SINE family that the frequently mentioned Alu repeat belongs. (bmj.com)
  • functional
  • There are several strongly linked polymorphisms in the 3′ untranslated region of VDR that are of unclear functional significance ( 26 - 28 ) but that nevertheless have been associated with risk of prostate cancer ( 29 - 31 ) and osteoporosis ( 28 , 32 - 34 ). (aacrjournals.org)
  • To gain further insight into potential functional roles, expression analysis of these gene families was performed using publically available data sets in various tissues and under abiotic stress conditions. (frontiersin.org)
  • Although high throughput sequencing techniques for functional diversity analysis are being developed nowadays, the use of already well established variable markers present in candidate genes is still an interesting alternative for mapping purposes and functional diversity studies. (ejbiotechnology.info)
  • whereas
  • We have found that the gain of novel LCRs is frequently associated with repeat expansion whereas the loss of LCRs is more often due to accumulation of amino acid substitutions as opposed to deletions. (biomedsearch.com)
  • Thus
  • Thus the AR activates these genes to mediate the effects of androgens in the human body, including the development and maintenance of the male sexual phenotype and generalized anabolic effects. (wikipedia.org)
  • pairs
  • AT in ATATATATAT) is repeated at least three times, (3) there are only few base pairs that do not match the periodic motif (see Methods). (biomedcentral.com)
  • expression
  • Expression of nitric oxide synthase (NOS) genes in channel catfish is highly regulated and time dependent after bacterial challenges. (auburn.edu)
  • duplication
  • Further, 56 tandem duplication events involving 169 genes were identified in these gene families which could be associated with expansion of genes within families in sorghum. (frontiersin.org)
  • 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)
  • novel
  • Genes in these two novel duplications include GABRB3 and ATP10A in one case, and MKRN3 , MAGEL2 and NDN in the other. (biomedcentral.com)
  • humans
  • Nevertheless, even focusing as intended upon microsatellites and their relevance to humans, it should become clear that most of these questions remain ones that will require consideration, even if only in passing. (bmj.com)
  • include
  • Prominent early applications include the identifications by microsatellite genotyping of the 8-year-old skeletal remains of a British murder victim (Hagelberg et al. (wikipedia.org)
  • study
  • We have chosen to study the AR CAG microsatellite and a polyadenylic acid [poly(A)] microsatellite in the 3′ untranslated region of VDR in relation to breast cancer in a large case-control study in a genetically homogenous population. (aacrjournals.org)
  • (5) suggested a 3% decrease in prostate cancer risk for each additional AR CAG repeat in a population-based case-control study of middle-aged Caucasian men. (aacrjournals.org)
  • markers
  • SSR markers derived from candidate genes (SSR-CG) can be used effectively in co-segregation studies and marker-assisted diversity management. (ejbiotechnology.info)