新疆维吾尔族和回族人TK—C基因多态性研究  

THE STUDY OF THE RFLPS OF TK-C GENE OF UYGUR AND HUI NATIONALITIES

作　　者：赵寿元[1] 乔守怡[1] 蔡新中[1] 吴敏[2] 马英梅[2] 

机构地区：[1]复旦大学遗传所 [2]新疆师范大学生物系

出　　处：《新疆师范大学学报（自然科学版）》1995年第2期60-68,共9页Journal of Xinjiang Normal University(Natural Sciences Edition)

摘　　要：本实验首次研究了少数民族人体细胞质胸苷激酶(TK—C)基因的限制性片段长度多态(Restriction Fragment Length Poly—morphism,简称RFLPs)现象。以人基因组TK—C基因中无重复顺序DNA片段PHK1.25/HindⅢ+BamHⅠ作为探针,和经限制性内切酶KpnⅠ消化的人体基因组DNA做Southern杂交,发现了3.1kb和2.6kb两种长度的片段。在经分折的22个维吾尔族人基因组DNA样品中,4个个体为3.1kb纯合子,8个个体为2.6kb纯合子,10个个体为3.1和2.6kb杂合子;同时,对20个回族人基因组DNA研究表明,5个为3.1kb纯合子,7个为2.6kb纯合子,8个为3.1和2.6kb杂合子。由此推测片段长度差异可能是由于Alu重复顺序的同源重组造成DNA片段的缺失或重复;而不同人群等位片段间频率的差异为研究人群迁移和近代分子进化提供了线索。同时,也为利用TK基因的RFLPs进行医学遗传学诊断提供了一定的理论基础。In this Paper , the result of human cytosol thymidine Kinase (TK-C) gene was re-ported. Human genomic DNA digeted with Restriction Enzyme Kpn I was Southern hy-bridized to Alu sequence-free fragment ,PHKl. 25Hind Ⅲ /BamH I,as a probe . The re-sults of blot analysis showed that there are two different length frangments, 3。 ikb and 2. 6kb Among 22 individuals of the Uygur Natidnalty tested, 4 appeared homozygote of 3. 1kb,10 appeared homozygote of 2. 6kb and 8 showed heterozygote. And among 20 individ-uals of the Hui Nationality tested ,5 appeared homozygote of 3. 1kb,7 homozygote of 2. 6kb and 8 showed heterozygote. This is the first report in this field and we infer that this two variants of length may be the result of homologous recombination between Alu repetitive elements. On the other hand , the divergent frequency of alleles between two multitudes gives a clue to migration of the multitude and modern molicular evolution. In the mean-time, we hope this polymorphic site will be useful in medical genetics as well.

关 键 词：维吾尔族 回族 TK—C基因 多态性 

分 类 号：Q987[生物学—遗传学]