中国维吾尔族人群MSY1(DYF155S1)基因座多态性及其结构特点

应用荧光标记MVR-PCR、Amp-FLP与DNA序列分析技术等检测106例中国维吾尔族人群无关男性个体血纱样品，揭示了中国维吾尔族人群Y特异的小卫星MSY1 (DYF155S1)基因座5′和3′端多态性及其基因结构特点。DYF155S1基因座的多态性表现为3个方面：（1）长度多态性；（2）5′端多态性；（3）3′端多态性。106例无关个体共检出37个不同长度的片段，5′端检出68个类型，3′端检出23个类型。综合这3方面多态性，106例个体间没有相同，其基因多样性（h）超过0.9999。DNA序列分析发现该基因座5′端表现有7种模块结构，3′端有2种模块结构。DYF155S2片段缺失率约为4.7%。MVR-PCR、Amp-FLP与DNA序列分析技术结合起来可以更充分地揭示人群Y染色体特异的小卫星MSY1（DYF155S1）基因座多态性，并提出命名方式，从而为人类遗传学及法医学研究提供了有用的方法和基础资料。 Abstract:The study is to reveal the diversity and gene structure of 5′ and 3′ end of DYF155S1 locus in Y-chromosome minisatellite among Chinese Uygur population.Fluorescent MVR-PCR（minisatellite variant repeat by PCR）,Amp-FLP(Amplified fragment length polymorphism) and DNA sequencing methods were used repectively to detect 106 unrelated males among Chinese Uygur population.The polymorphisms of DYF155S1 locus could be revealed in three aspects:(1) polymorphic length:the sizes of amplified fragments ranged from 1405 to 2505bp.There are 37 types found among the 106 unrelated males.(2) polymorphism at 5′ end of DYF155S1 locus,68 types found among the 106 unrelated males.(3) polymorphism at 3′ end of DYF155S1 locus,23 types found among the 106 unrelated males.In combination of these three aspects of polymorphism,none of the 106 unrelated males tested had the same allele,and the gene diversity(h) was over 0.9999.Seven and two types of modular structure were founded in the 5′ and 3′ end of DYF155S1 locus,respectively,by DNA sequencing.The alleles at DYF155S2 locus showed yes/no dimorphism and the rate of deletion was 4.7%.The polymorphisms of DYF155S1 locus were fully revealed by using combination of MVR-PCR, Amp-FLP and DNA sequencing methods， and we suggested the nomenclature for alleles of MVR loci.These methods are useful tools and provide basic data for the study of human genetics and forensic medicine.

The Characteristics of Polymorphism and Gene Structure of DYF155S1 Locus in Y-specific Minisatellite from Chinese Uygur Population

The study is to reveal the diversity and gene structure of 5' and 3' end of DYF155S1 locus in Y-chromosome minisatellite among Chinese Uygur population. Fluorescent MVR-PCR(minisatellite variant repeat by PCR), Amp-FLP(Amplified fragment length polymorphism) and DNA sequencing methods were used respectively to detect 106 unrelated males among Chinese Uygur population. The polymorphisms of DYF155S1 locus could be revealed in three aspects: (1) polymorphic length: the sizes of amplified fragments ranged from 1405 to 2505 bp. There are 37 types found among the 106 unrelated males. (2) polymorphism at 5' end of DYF155S1 locus, 68 types found among the 106 unrelated males. (3) polymorphism at 3' end of DYF155S1 locus, 23 types found among the 106 unrelated males. In combination of these three aspects of polymorphism, none of the 106 unrelated males tested had the same allele, and the gene diversity (h) was over 0.9999. Seven and two types of modular structure were founded in the 5' and 3' end of DYF155S1 locus, respectively, by DNA sequencing. The alleles at DYF155S2 locus showed yes/no dimorphism and the rate of deletion was 4.7%. The polymorphisms of DYF155S1 locus were fully revealed by using combination of MVR-PCR, Amp-FLP and DNA sequencing methods, and we suggested the nomenclature for alleles of MVR loci. These methods are useful tools and provide basic data for the study of human genetics and forensic medicine.