• alleles
  • It is not clear from the data whether the occurrence of expanded alleles in unaffected individuals reflects reduced penetrance, delayed disease onset or the possibility of linkage disequilibrium between another causative allele and the expanded repeat," says Dr. Baratz. (mayoclinic.org)
  • 3 , 4 We report a case of late-onset SCA2 with homozygous alleles of 31 trinucleotide repeats in ATXN2 . (neurology.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)
  • Normal alleles usually have 22 or 23 repeats, but can contain up to 31 repeats. (wikipedia.org)
  • genetic
  • The interesting aspect, from a genetic standpoint, is that trinucleotide repeat diseases have various mechanisms through which they cause disease," says Dr. Baratz. (mayoclinic.org)
  • News Release, Weizmann Institute of Science, "Scientists at the Weizmann Institute, using computer simulations, have provided an explanation as to why certain genetic diseases caused by repeats in the code are "genetic time-bombs" whose onset and progression can be accurately predicted," November 21, 2007, at http://80.70.129.162/site/en/weizman.asp?pi=371&doc_id=5042. (wikipedia.org)
  • medical citation needed] In 2011, a genetic abnormality known as a hexanucleotide repeat was found in a region called C9orf72, which is associated with ALS combined with frontotemporal dementia ALS-FTD, and accounts for some 6% of cases of ALS among white Europeans. (wikipedia.org)
  • allele
  • The disease allele usually contains 34-52 CAG repeats, but can contain as few as 32 or more than 100, and can expand in size when transmitted to successive generations. (wikipedia.org)
  • vitro
  • Human and animal cell lines with or without MutS2 overexpression will be examined for their ability to repair (CAG)n hairpins in vitro and to replicate CAG repeats in vivo. (grantome.com)
  • codon
  • While the symptoms and the affected body parts vary by disease, scientists consider two illnesses to be similar if they share the same repeated codon as their cause. (stanford.edu)
  • Locus
  • 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)
  • FECD
  • The repeat length was greater than 1,000 in four FECD cases and no control cases. (mayoclinic.org)
  • 50 TGC repeats identifying FECD in this patient cohort was 79 percent and 96 percent, respectively. (mayoclinic.org)
  • If the repeat expansion is causative for FECD, we hypothesize that the effect is to alter the expression of the gene in some way rather than to simply inactivate it. (mayoclinic.org)
  • intron
  • If the repeat is present in an intron it can cause toxic effects by forming spherical clusters called RNA foci in cell nuclei. (wikipedia.org)
  • stable
  • Because CAG and CTG repeats form thermo- stable hairpins with multiple A-A and T-T mispairs in the hairpin stem, respectively, DNA mismatch repair (MMR) and TNR hairpin repair have been proposed to play major roles in TNR maintenance. (grantome.com)
  • sequences
  • The repair targets the nicked strand for incisions at the repeat sequences, followed by repair DNA synthesis using the continuous strand as a template, thereby ensuring TNR stability. (grantome.com)
  • patients
  • We now report the analysis of AR CAG repeat length in 270 Caucasian prostate cancer patients who are participating in this study. (aacrjournals.org)
  • human
  • The human homolog of mbl, MBNL1, which was originally identified as binding CUG repeats in RNA, has since been shown to bind CAG (and CCG) repeats as well. (wikipedia.org)
  • normal
  • However, how the repeat units expand and what cellular mechanism(s) prevent such an expansion in normal population are not fully understood. (grantome.com)
  • A (CAG)n repeat longer than the normal range was observed on HD chromosomes from all 75 disease families examined, comprising a variety of ethnic backgrounds and 4p16.3 haplotypes. (nih.gov)
  • An expansion of the trinucleotide (GCN) repeat from normal 10 to 11-17 at the 5' end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. (wikipedia.org)
  • cause
  • citation needed] Recent results suggest that the CAG repeats need not always be translated in order to cause toxicity. (wikipedia.org)
  • strand
  • However, if the loop out structure is formed on the parent strand, a decrease in the number of repeats occurs. (wikipedia.org)