Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population.
- VernacularTitle:中国汉族人群脊髓小脑性共济失调1、2、3、6、7、8、10、12、17亚型和齿状核红核苍白球路易体萎缩亚型多核苷酸正常重复次数范围研究
- Author:
Jun-ling WANG
1
;
Yun-qin WU
;
Li-fang LEI
;
Lu SHEN
;
Hong JIANG
;
Ya-fang ZHOU
;
Ji-ping YI
;
Jie ZHOU
;
Xin-xiang YAN
;
Qian PAN
;
Kun XIA
;
Bei-sha TANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; ethnology; genetics; Base Sequence; Case-Control Studies; Humans; Male; Middle Aged; Molecular Sequence Data; Myoclonic Epilepsies, Progressive; ethnology; genetics; Spinocerebellar Ataxias; ethnology; genetics; Trinucleotide Repeat Expansion
- From: Chinese Journal of Medical Genetics 2010;27(5):501-505
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assist the establishment of platform and provide the reference standard for mutation detection in spinocerebellar ataxia (SCA) subtypes 1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese Han population.
METHODSThe nucleotide repeat numbers of the 9 SCA subtypes and DRPLA were detected using fluorescence-PCR and capillary gel electrophoresis technique in 300 healthy Chinese Han individuals.
RESULTSAmong the 300 healthy controls, the range of the CAG trinucleotide repeat number was 17 to 35 in SCA1, 14-28 in SCA2, 13-41 in SCA3/MJD, 4-16 in SCA6, 5-17 in SCA7, 5-21 in SCA12, 23-41 in SCA17, and 12-33 in DRPLA; and the range of CTA/CTG trinucleotide repeat number on SCA8 locus was 12-43 and the range of ATTCT pentanucleotide repeat number on SCA10 locus was 9-32. Of which, the 12 CTA/CTG repeats of SCA8, 9 ATTCT repeats of SCA10, 23 CAG repeats of SCA17 were the shortest normal repeat number, while the 41 CAG repeats of SCA3/MJD, 32 CAG repeats of SCA10 were the largest normal number that have not been reported.
CONCLUSIONThe normal ranges of polynucleotide repeats of different subtypes of SCA vary with geographical areas and ethnicities. It might be associated with the genetic and ethnic backgrounds. This is the first normal reference standard of polynucleotide repeat number of these ten SCA subtypes in Chinese Han.
