• alleles
  • specifically, the length differences observed between microsatellite alleles are generally multiples of the repeat unit length. (wikipedia.org)
  • 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)
  • Except for XTH2, high levels of polymorphism were detected: 93 alleles (mean of 13.1 sd 1.6 alleles per locus), a mean effective number of alleles (Ne) of 5.4 (sd 1.6), polymorphic information content values (PIC) from 0.617 to 0.855 and probability of Identity (PI) ranging from 0.030 to 0.151. (ejbiotechnology.info)
  • unstable
  • Three, single nucleotide polymorphisms (SNPs) spanning the third intronic region of TCF4 (rs613872, rs17089887, and rs17089925) and an unstable trinucleotide repeat CTG18.1 allele were genotyped by direct sequencing using Sanger's method. (arvojournals.org)
  • base pairs
  • Some types of satellite DNA in humans are: A repeated pattern can be between 1 base pair long (a mononucleotide repeat) to several thousand base pairs long[citation needed], and the total size of a satellite DNA block can be several megabases without interruption. (wikipedia.org)
  • 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)
  • polymorphism
  • length polymorphism and gene regulation. (jbsdonline.com)
  • 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)
  • 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)
  • species
  • The nucleotide sequence of the repeats is fairly well conserved across species. (wikipedia.org)
  • To investigate a more detailed evolutionary history of Lindera obtusiloba (Lauraceae) and other Lindera species, polymorphic low-copy nuclear primers were developed. (readbyqxmd.com)
  • Microsatellite primers were developed for Primula ovalifolia, a member of Primula section Petiolares (Primulaceae), to study the population genetics and species delimitation in this section. (readbyqxmd.com)
  • Huntington's
  • 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)
  • For instance, expansion of CAG repeats in the coding region of HD genes in humans can lead to Huntington's disease, most likely through activation of so-called 'toxic' proteins. (biomedcentral.com)
  • linkage
  • They are also used in genetic linkage analysis to locate a gene or a mutation responsible for a given trait or disease. (wikipedia.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)
  • No evidence for linkage of the AR gene to prostate cancer was observed. (aacrjournals.org)
  • diseases
  • In concordance, most known repeat-related diseases are caused by expansion of 3-repeat elements (Trinucleotide Disease) in relatively long tandem repeats [ 15 ], but other types of length variations may likewise contribute to disease risk. (biomedcentral.com)
  • Most inherited diseases are rare, but taken together, the more than 6,000 disorders known to result from single altered genes rob millions of healthy and productive lives. (scribd.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)
  • tumor
  • Expression of tumor suppressor genes in channel catfish after bacterial infections. (auburn.edu)
  • populations
  • In most cases, identifying the population structure of a given infection agent relies on a blind approach that considers "sufficient" gene sampling and a "good" survey of the natural populations [ 10 ], where "good" and "sufficient" depend on the underlying question. (biomedcentral.com)
  • encodes
  • Transcription factor 4 ( TCF4 ), that encodes for E2-2 protein, a group of E protein transcription factors known for cellular growth and differentiation, is one such gene that has been associated with this disease. (arvojournals.org)
  • The gene encodes a transcription factor that binds male sex steroid hormones. (aacrjournals.org)
  • The FMR1 gene encodes the Fragile X Mental Retardation Protein (FMRP) which is thought to be involved in regulating protein synthesis. (brainscape.com)
  • short
  • For example, minisatellite DNA is a short region (1-5kb) of 20-50 repeats. (wikipedia.org)
  • 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)
  • Here we focus on a class of very short tandem repeats and their contribution to disease risk. (biomedcentral.com)
  • positional
  • Out of the more than 6000 recorded inherited disorders only 75 were traced back to their genes using positional cloning and other approaches. (scribd.com)
  • phylogenetic
  • Channel catfish hemoglobin genes: Identification, phylogenetic and syntenic analysis, and specific induction in response to heat stress. (auburn.edu)
  • 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)
  • protein
  • 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)
  • Information regarding non-protein coding genes as well as regulatory regions has thrown up several new areas of research. (scribd.com)
  • The group of 112 unique genes features 73 protein-coding genes, 30 tRNA genes, four rRNA genes and five conserved chloroplast open reading frames (ORFs). (peerj.com)
  • human
  • 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)
  • As with the human disease, an ∼3:1 bias for repeat expansions over contractions is observed. (genetics.org)
  • 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)
  • strand
  • During lagging-strand synthesis, unusual structures such as slipped strands may form, which may result in expansions or contractions in the next replication round. (genetics.org)
  • In addition, stalling of the replication fork could result in double-strand breaks (DSBs) or fork reversal, leading to repeat length alterations ( M irkin and M irkin 2007 ). (genetics.org)
  • expression
  • Expression of nitric oxide synthase (NOS) genes in channel catfish is highly regulated and time dependent after bacterial challenges. (auburn.edu)