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[Studies on the CTA/CTG trinucleotide repeats of ATXN8OS gene in Chinese Hans].
- Source :
-
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2008 Oct; Vol. 25 (5), pp. 511-4. - Publication Year :
- 2008
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Abstract
- Objective: To 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.<br />Methods: The (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.<br />Results: There 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.<br />Conclusion: SCA8 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.
- Subjects :
- Adolescent
Adult
Aged
Alleles
Base Sequence
Case-Control Studies
Child
Child, Preschool
DNA Mutational Analysis
Female
Gene Dosage
Gene Frequency
Humans
Male
Middle Aged
RNA, Long Noncoding
RNA, Untranslated
Spinocerebellar Ataxias genetics
Asian People genetics
Ethnicity genetics
Nerve Tissue Proteins genetics
Trinucleotide Repeats genetics
Subjects
Details
- Language :
- Chinese
- ISSN :
- 1003-9406
- Volume :
- 25
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 18841561