Studies on the CTA/CTG trinucleotide repeats of ATXN8OS gene in Chinese Hans.
- Author:
Junling WANG
1
;
Shen ZHANG
;
Qian XU
;
Xiaohui LI
;
Xingwang SONG
;
Hong JIANG
;
Lu SHEN
;
Xinxiang YAN
;
Qian PAN
;
Kun XIA
;
Beisha TANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Alleles; Asian Continental Ancestry Group; genetics; Base Sequence; Case-Control Studies; Child; Child, Preschool; DNA Mutational Analysis; Ethnic Groups; genetics; Female; Gene Dosage; Gene Frequency; Humans; Male; Middle Aged; Nerve Tissue Proteins; genetics; RNA, Long Noncoding; RNA, Untranslated; Spinocerebellar Ataxias; genetics; Trinucleotide Repeats; genetics
- From: Chinese Journal of Medical Genetics 2008;25(5):511-514
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the normal range of (CTA/CTG)n repeats of ATXN8OS gene in Chinese Hans, and the frequency of ATXN8OS (CTA/CTG)n repeat expansion in spinocerebellar ataxia(SCA) patients in Mainland China.
METHODSThe (CTA/CTG)n repeats of ATXN8OS gene were detected using fluorescence-PCR, 8% denaturing polyacrylamide gel and capillary electrophoresis technique in 132 SCA patients in whom CAG expansion at the SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy(DRPLA) loci has been excluded, and 261 healthy controls.
RESULTSThere were no obvious abnormal changes of the (CTA/CTG)n repeats of ATXN8OS gene in the 132 SCA patients. Thirty-five SCA patients were homozygotes (26.5%), and the range of CTA/CTG repeat number was 17 to 47 (24.20+/-4.57), among which 18 repeats appeared most frequently. In 261 normal controls, 70 were homozygotes (26.8%), and the range of the CTA/CTG repeat number was from 12 to 43 (24.04+/-4.53), among which 18 repeats was the most frequent.
CONCLUSIONSCA8 is a rare subtype of SCA in Mainland China. The low prevalence of SCA8 seems to be correlated with the low frequency of large (CTA/CTG)n copy number alleles in Chinese population.
