{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:49:55Z","timestamp":1790768995325,"version":"4.1.0"},"reference-count":46,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,8,30]],"date-time":"2013-08-30T00:00:00Z","timestamp":1377820800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Intermediate alleles (27\u201335\u2009CAG, IAs) for Huntington disease (HD) usually do not confer the disease phenotype but are prone to CAG repeat instability. Consequently, offspring are at\u2010risk of inheriting an expanded allele in the HD range (\u226536\u2009CAG). IAs that expand into a new mutation have been hypothesized to be more susceptible to instability compared to IAs identified on the non\u2010HD side of a family from the general population. Frequency estimates for IAs are limited and have largely been determined using clinical samples of HD or related disorders, which may result in an ascertainment bias. This study aimed to establish the frequency of IAs in a sample of a British Columbia's (B.C.) general population with no known association to HD and examine the haplotype of new mutation and general population IAs. CAG sizing was performed on 1,600 DNA samples from B.C.'s general population. Haplotypes were determined using 22 tagging SNPs across the <jats:italic>HTT<\/jats:italic> gene. 5.8% of individuals were found to have an IA, of which 60% were on HD\u2010associated haplotypes. There was no difference in the haplotype distribution of new mutation and general population IAs. These findings suggest that IAs are relatively frequent in the general population and are often found on haplotypes associated with expanded CAG lengths. There is likely no difference in the propensity of new mutation and general population IAs to expand into the disease range given that they are both found on disease\u2010associated haplotypes. These findings have important implications for clinical practice. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32193","type":"journal-article","created":{"date-parts":[[2013,8,30]],"date-time":"2013-08-30T09:52:27Z","timestamp":1377856347000},"page":"864-871","source":"Crossref","is-referenced-by-count":41,"title":["High frequency of intermediate alleles on huntington disease\u2010associated haplotypes in British Columbia's general population"],"prefix":"10.1002","volume":"162","author":[{"given":"Alicia","family":"Semaka","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Centre for Molecular Medicine and Therapeutics, University of British Columbia Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Kay","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Centre for Molecular Medicine and Therapeutics, University of British Columbia Vancouver 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