Polymorphism of two novel SNPs, which locate on chromosome 9p21-22, in Han Chinese of Hunan.
- Author:
Wei XIONG
1
;
Zhao-yang ZENG
;
Shou-rong SHEN
;
Xiao-ling LI
;
Hong-bin LU
;
Juan-juan XIANG
;
Xin-min NIE
;
Shi-guo ZHU
;
Wei-fang LI
;
Rong WANG
;
Lin HE
;
Gui-yuan LI
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Base Sequence; Carrier Proteins; genetics; China; ethnology; Chromosomes, Human, Pair 9; genetics; Genes, p16; physiology; Genetic Predisposition to Disease; Humans; Membrane Proteins; genetics; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; Tumor Suppressor Proteins; genetics
- From: Chinese Journal of Medical Genetics 2003;20(3):203-206
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo search novel SNPs in exons and regulatory regions of CDKN2A and two novel putative tumor suppressor genes NGX6 and UBAP1, which all reside on chromosome 9p21-22.
METHODSThe exons and regulatory regions of those genes were amplified and sequenced in 96 subjects.
RESULTSTwo novel SNPs were found, one resides on the sixth exon of UBAP1 gene and the other on the fourth exon of CDKN2A gene. Two novel SNPs were submitted to the dbSNP database, and their access ID are rs3135929 and rs3088440. The polymorphic information contents of them are 0.102 and 0.213 respectively. There is linkage equilibrium between them, and the polymorphic information content of their haplotype is 0.302, higher than any of them individually.
CONCLUSIONThe polymorphic information content can be improved by using haplotype analysis of several SNPs.
