The haplotypes of three single nucleotide polymorphisms in caspase-3 gene in Han nationality of Zhejiang province in China.
- Author:
Yun XIE
1
;
Ren ZHOU
;
Yue-fang YE
;
Shui-you YANG
;
Wei ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Caspase 3; Caspases; genetics; China; ethnology; DNA Mutational Analysis; Gene Frequency; Genotype; Haplotypes; Humans; Introns; Linkage Disequilibrium; Polymorphism, Single Nucleotide
- From: Chinese Journal of Medical Genetics 2004;21(6):633-635
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the single nucleotide polymorphisms (SNPs) and the distribution of their haplotypes in caspase-3 gene in Zhejiang Han nationality in China.
METHODSDenaturing high-performance liquid chromatography (DHPLC) and DNA sequencing were used to detect the SNPs in the regulatory region and the exons 2-7 and their flanking sequences in caspase-3 gene. Expectation maximization (EM) algorithm was used for haplotype frequencies analysis and pairwise linkage disequilibrium test.
RESULTS(1) Three SNPs were identified in caspase-3 gene; the three sites C829A, A17532C and C20541T were located in 5' regulatory region, intron 4 and 3' regulatory region, respectively. (2) Strong linkage disequilibrium was found among these SNPs; site A17532C and C20541T were in complete linkage disequilibrium. (3) C-829/A-17532/C-20541 (54.3%) was the main haplotype of Zhejiang Han nationality.
CONCLUSIONThe above findings indicated there is strong linkage disequilibrium among the three SNPs in caspase-3 gene in Han nationality of Zhejiang province and the main haplotype of Han nationality is obviously different from that of North American.
