国人D17S30遗传多态性研究  

STUDY OF THE D17530 LOCUS POLYMORPHISM IN CHINESE POPULATION

作　　者：韩宇 李生斌 

出　　处：《西安医科大学学报》1996年第4期425-428,共4页Journal of Xi'an Medical University(Chinese)

基　　金：国家自然科学基金

摘　　要：采用基因扩增结合电泳银染技术分析１３０名汉族群体ＤＮＡＤ１７Ｓ３０遗传多态性，发现了１３个等位基因，基因频率为０．００７８～０．３５３８，有４２种基因型，其观察值和期望值经Ｘ２检验符合Ｈａｒｄｙ－Ｗｅｉｎｂｅｒｇ平衡定律；３个家系的９名成员Ｄ１７Ｓ３０遗传学分析，符合孟德尔遗传学规律。表明ＤＮＡＤ１７Ｓ３０在国人汉族群体具有高度多态性，在医学基因诊断、遗传学研究和法科学个人识别、亲权鉴定等领域是非常有价值的遗传标记。D17S30 is a highly polymorphistic VNTR Locus. Allelic data for the D17S30 Locus was obtained by using PCR and Subsequent analysis with high resolution, horizontal PAGE technic and silver staining,In a sample of 130 unrelated Chinese Han, heterozygosity of the D17S30 Locus was 82.63%with 42 genotypes and 13 alleles.The allele frequencies were 0.0078～0.3538. The distribution of genotypes was in agreement with expected values according to the Hardy-weinberg equilibrium.Pedigree analysis in three families confirmed Mendellan inheritence of the alleles.The results showed that D17S30 Locus was a higb polymorpbism. The analysis of D17S30 and similar VNTR Loci by amplified fragment length polymorphism(Amp-FLP)may prove useful as models for populatron genetic issues, human identification and genetic diagnosis. It is a great valuable genetic marker in clinical diagnosis, genetic research, forensic identification and paternity testing.

关 键 词：基因扩增 D17S30位点 DNA分型 遗传多态性 

分 类 号：Q346.5[生物学—遗传学]