[The haplotypes of three single nucleotide polymorphisms in caspase-3 gene in Han nationality of Zhejiang province in China].
OBJECTIVE
To investigate the single nucleotide polymorphisms (SNPs) and the distribution of their haplotypes in caspase-3 gene in Zhejiang Han nationality in China.


METHODS
Denaturing 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.


CONCLUSIONS
The 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.
Xie
Yun
Y
Institute of Pathology and Forensic Medicine & Research Center of Environment Genomics, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310006 P. R. China.
Zhou
Ren
R
Ye
Yue-fang
YF
Yang
Shui-you
SY
Zhang
Wei
W
D044466:Asian People / Q000235:genetics*; D053148:Caspase 3; D020169:Caspases / Q000235:genetics*; D002681:China / Q000208:ethnology; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007438:Introns; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide
C505407:CASP3 protein, human; D053148:Caspase 3; D020169:Caspases