中国汉族群体MPSⅣA型StuⅠ位点的遗传多态性

[目的]研究中国汉族群体GALNS基因Stu Ⅰ位点的遗传多态性以及该位点等位基因片段传递的规律,为今后的连锁分析打下基础。[方法]采用PCR-RFLP方法,对180例无血缘关系的健康中国汉族个体的360条染色体和6个家系18位成员的36条染色体进行检测。然后用x~2检验进行统计学处理。[结果]等位基因片段D_1的频率为0.72,D_2为0.28,杂合率为27%,D_1、D_2的传递规律与理论上预计的完全符合。[结论]中国汉族群体中Stu Ⅰ位点存在多态性,其基因频率(D_1和D_2)与高加索群体的有显著差别,与日本群体的则无显著差别;而杂合率与高加索群体及日本群体的均有显著差异。D_1、D_2在世代中的传递完全符合孟德尔遗传规律。

RFLP of A Stu Ⅰ Site in the GALNS Gene in Mucopolysaccharidosis Type ⅣA of Chinese Han Population

[Objective] To investigate the genetic polymorphism of the Stu I site in the GALNS gene from a Han population in China and to study the mode of transmission of alleles. [ Methods ] PCR-RFLP was used to analyze 360 chromosomes from 180 Chinese unrelated healthy Han individuals, and the analysis of the genotypes of members in six families. To compare the frequencies and het-erzygosity between Chinese Han population and Caucasians and Japanese by using X2 test. [Results] The frequency of allele 1 (D1) was 0.72, allele 2 (D2) 0.28, the heterozygosity was 27% . The genotypes of each member of all families detected was completely agreement with the theorical assessment. [Conclusion] The locus of Stu I in the GALNS gene from Han population has polymorphism. There is significant difference between Chinese Han population and Caucasians in the frequencies of gene,but no significant difference between Chinese Han population and Japanese. In addition, there is significant difference in heterzygosity between Chinese Han population and Caucasians and Japanese. The transmission of D1 and D2 was completely agreement with the Mendelian genetic law.