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[Analysis and application of SCA1 and SCA3/MJD gene CAG repeats in Han population in Northeastern China].
- 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] 2004 Feb; Vol. 21 (1), pp. 83-5. - Publication Year :
- 2004
-
Abstract
- Objective: To investigate the normal range of (CAG)n in spinocerebellar ataxia type 1 (SCA1) gene and spinocerebellar ataxia type 3 (SCA3/MJD) gene in 110 normal subjects of Han population in Northeastern China, to assess the genotypes for clinically diagnosed spinocerebellar ataxia(SCA) individuals including 25 patients from 8 families and 6 sporadic patients, and to make presymptomatic and prenatal diagnosis.<br />Methods: DNA fragments from the normal subjects and the patients were detected by fluorescence-PCR. Homozygosities were selected for DNA sequencing.<br />Results: The normal ranges of (CAG)n of SCA1 and SCA3/MJD were 20-39 and 14-38 repeats respectively, SCA1 was found mostly to be 26 and 27 repeats, allele frequency 34.09% and 20.91%; heterozygosity was 84.55%, SCA3/MJD was found mostly to be 14 repeats, allele frequency 39.55%, heterozygosity was 78.18%.(CAG)(68) of SCA3/MJD gene of one affected individual had been found in a family but no CAG mutative expansion in related members was observed.<br />Conclusion: The normal ranges of CAG repeats vary with areas and races. SCAs genotyping is the first choice in presymptomatic and prenatal diagnosis.
- Subjects :
- Ataxin-1
Ataxin-3
Ataxins
China
DNA chemistry
DNA genetics
Family Health
Female
Gene Frequency
Genotype
Humans
Machado-Joseph Disease diagnosis
Machado-Joseph Disease genetics
Male
Pedigree
Repressor Proteins
Sequence Analysis, DNA
Spinocerebellar Ataxias diagnosis
Spinocerebellar Ataxias genetics
Trinucleotide Repeat Expansion genetics
Nerve Tissue Proteins genetics
Nuclear Proteins genetics
Trinucleotide Repeats genetics
Subjects
Details
- Language :
- Chinese
- ISSN :
- 1003-9406
- Volume :
- 21
- Issue :
- 1
- 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 :
- 14767919