[Single nucleotide polymorphisms of genes associated with high density lipoprotein metabolism in Chinese population]

Autor: Han-bin, Cui, Chang-cong, Cui, Yi, Ma, Dong-qi, Wang, Chen, Huang, Ai-feng, Zhang, Jiang-fang, Lian, Xian-ming, Su
Rok vydání: 2005
Předmět:
Zdroj: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 22(1)
ISSN: 1003-9406
Popis: To study the single nucleotide polymorphisms in genes associated with the high density lipoprotein (HDL) metabolism in Chinese population.Two hundred and nine normal Han ethnic subjects, aged 59+/-10 years, were recruited from 5 medical centers in western part of China. DNA was extracted by proteinase K digestion, phenol and chloroform extraction as well as isopropanol precipitation. The polymerase chain reaction (PCR)-restriction fragment length polymorphisms (RFLP) in conjunction with sequencing were employed to test the single nucleotide polymorphisms (SNPs) in ATP-binding cassette transporter (ABCA1), cholesteryl ester transfer protein (CETP) and lipoprotein lipase (LPL) genes.The allelic frequencies of A and G of ABCA1 gene are 53.4% and 46.6%; of B2 and B1 allele of CETP, 41.0% and 59.0%; of HindIII (-) and (+) allele of LPL, 18.9% and 81.1%; and of PvuII(+) and (-) allele of LPL, 66.0% and 34.0%, respectively. All genotype frequencies fit well with the Hardy-Weinberg equilibrium; the significant linkage disequilibrium exists between LPL HindIII(+)and PvuII(+) polymorphisms. All of the RFLP in these genes result from the single nucleic substitution in fragment recognized by corresponding restriction enzymes.The genetic polymorphisms of ABCA1, LPL-HindIII and LPL-PvuII in Chinese Han ethnic population are significantly different from Caucasians residing in USA or Europe.
Databáze: OpenAIRE