Yang Zhi-hui, Zhang Lin, Zhou Bin, Wang Chuang, Jia Jing
Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu 610041, China.
Sichuan Da Xue Xue Bao Yi Xue Ban. 2006 May;37(3):471-3.
The aim of this study is to establish a new method for detecting the DNA polymorphism of human complement component C8A.
Based on the point mutation (C-->A) of C8A gene in exon3,The genotypes of 98 unrelated individuals from Han population in Chengdu were studied by polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP)analysis followed by DNA sequencing.
The genotypes of C8A * AA, C8A * BB and C8A * AB were observed and the distribution of the genotypes frequencies of C8A in Chengdu Han population was in accordance with Hardy-Weinberg equilibrium.
The method of PCR-SSCP is reliable, rapid, simple and cost-effective in detecting the DNA polymorphism of C8A, and it is valuable for further application in population genetic study and forensic science practice.
本研究旨在建立一种检测人类补体成分C8A基因多态性的新方法。
基于C8A基因外显子3中的点突变(C→A),采用聚合酶链反应-单链构象多态性(PCR-SSCP)分析及DNA测序技术,对成都地区98名汉族无关个体的基因型进行研究。
观察到C8A * AA、C8A * BB和C8A * AB基因型,且成都汉族人群中C8A基因型频率分布符合Hardy-Weinberg平衡。
PCR-SSCP方法在检测C8A基因多态性方面可靠、快速、简便且成本效益高,在群体遗传学研究和法医学实践中具有进一步应用价值。