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新疆克里雅人β-珠蛋白基因多态性分析

Analysis on beta-globin gene polymorphism in Xinjiang’s Kerian

  • 摘要: 目的 探讨血红蛋白病的点突变有关β-珠蛋白AvaII位点基因多态性的分布规律。方法 以居住于塔克拉玛干沙漠腹地克里雅河下游封闭人群(克里雅人群)为研究对象,采用聚合酶-限制性片段长度多态性(PCR-RFLP)技术和凝胶成像分析方法,对54例无血缘关系的健康克里雅人群的染色体进行检测,应用SPSS 12.0统计软件分析基因型频率、基因频率分布,并与其他种族进行比较。结果 调查人群β-珠蛋白AvaII位点基因的等位基因频率:β-Gg1=42.59%,β-Gg2=57.41%;基因型频率依次为:β-Gg1/2=48.15%,β-Gg1/1=18.52%,β-Gg2/2=33.33%,3种基因型的分布符合哈迪-温伯格(Hardy-Weinberg)平衡吻合度定律。与外国人群相比,β-Gg1/1型分布频率显著高于韩国和柬埔寨人群(χ2=7.154 3,χ2=6.102 4,P=0.005)而Gg2/2型分布频率显著低于中国南方汉族人群(χ2=6.216 3,P=0.01)。β-Gg1和β-Gg2等位基因频率分析显示,克里雅人群同样与中国南方汉族和日本人群的差异有统计学意义(χ2=10.9351,P=0.001)。而与其他的人群比较,差异均无统计学意义(P>0.05)。结论 新疆健康克里雅人群β-珠蛋白AvaII位点基因分布特征及其等位基因频率分布与其他人群不完全相同,存在不同民族与区域上的差异。

     

    Abstract: Objective To take the closed crowd(Keriya population)living in the downriver area of Kerian in the hinterland of Takala Makan desert as the research object to investigate rule of distr action of the gene polymor phism of beta globin A vall loci.Methods Use polymerase restrictive fragment length polymorphism technique and the imagery analysis method to carry on the examination of chromosomes of fifty-four Keriy a individuals without blood relationships from each others.Also to apply the SPSS 12.0 statistics software to analyze gene frequency,the gene frequency distribution,and carry on the comparison with other races.Results The allele gene frequency of beta globin Avallloci in Kriy a crowds.Beta-Gg1/2=48.15%,beta-Gg1/1=18.52%,beta-Gg2/2=33.33%.These three kind of genes distribution conformed to HardyWeinberg law.Compared with the foreign crowd,beta the-Gg1/1 distribution frequency remarkably ishigher than South Korean and the Cambodian crowd(χ2=7.154 3,χ2=6.102 4,P=0.005),but the Gg2/2 distr ibution frequency remar kably was lower than south China the Han Nationality crowd(χ2=6.216 3,P=0.01).Beta-Gg* 1 and beta the-G*g2 allele frequency analysis demonstrated that the Keriya closed crowd had remarkable difference from the Han nationality of south China and the Japanese crowd(χ2=10.9351,P=0.001).But compard with other crowds,there was not remarkable difference(P>0.05).Conclusion A velle gene in health Keria closed crowd distributed with characteristic,and has provided Keriya crowd beta-globin A vaII position spot allele frequency distribution material,which can provid the important reference data for genetics and disease relevant research.

     

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