지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 32 - 36 (5page)
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초록· 키워드
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Background and Purpose The prevalence of Huntington’s disease (HD) among East Asiansis less than one-tenth of that among Caucasians. Such a low prevalence may be attributable to alack of carriers of specific predisposing haplogroups associated with the high instability of theHuntingtin gene (HTT). The aim of this study was to evaluate the association between specificHTT haplogroups and the occurrence of HD in a Thai population.
Methods CAG-repeat sizes and HTT haplotypes were analyzed in 18 Thai HD patients and215 control subjects. Twenty-two tagging single-nucleotide polymorphisms (tSNPs) were genotyped. Results Only 18 patients from 15 unrelated families were identified over the last 17 years. Pathological CAG-repeat alleles ranged from 39 to 48 repeats (43.5±3.0, mean±SD), and normal alleles ranged from 9 to 24 repeats (16.49±1.74). Only two of the chromosomes studiedcomprised intermediate alleles. Unlike the Caucasian data, all but 1 of the 22 tSNPs were notassociated with the occurrence of HD. The predisposing haplogroups for Caucasian HD (haplogroups A1 and A2) are very rare in Thai patients (<4%). Both HD and normal chromosomesare commonly haplogroups A5 and C, in contrast to the case for Chinese and Japanese patients,in whom only haplogroup C was common in HD chromosomes. The frequency of CAG-repeatsizes of haplogroup A5 and C were also similarly distributed. Conclusions HD chromosomes of Thai patients may arise randomly from each haplogroup, with a similar mutation rate. This rate is much lower than the CAG expansions from Caucasian HD haplogroups. These data suggest that the different mechanisms underlie CAG expansion in Thai and Caucasian patients.
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참고문헌 (19)
참고문헌 신청
Chang CM / 1994 / Huntington’s disease in Hong Kong Chinese: epidemiology and clinical picture / Clin Exp Neurol 31 : 43 ~ 51
Chong SS / 1997 / Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses / Hum
Conneally PM / 1984 / Huntington disease: genetics and epidemiology / Am J Hum Genet 36 : 506 ~ 526
Duyao M / 1993 / Trinucleotide repeat length instability and age of onset in Huntington’s disease / Nat Genet 4 : 387 ~ 392
Falush D / 2001 / Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases / Am J H
Chong SS / 1997 / Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses / Hum
Conneally PM / 1984 / Huntington disease: genetics and epidemiology / Am J Hum Genet 36 : 506 ~ 526
Duyao M / 1993 / Trinucleotide repeat length instability and age of onset in Huntington’s disease / Nat Genet 4 : 387 ~ 392
Falush D / 2001 / Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases / Am J H
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