内蒙古临河地区异常血红蛋白一级结构分析及群体遗传学研究

To study the abnomal bemglobin in Inner Mongolia Linhe area and the population genetics

目的研究内蒙古西部临河地区异常血红蛋白变异类型和异常血红蛋白基因频率。方法运用Hardy-Weinberg平衡法则计算异常血红蛋白在临河地区的基因频率。同时,应用异常血红蛋白化学结构分析方法对内蒙古临河地区发现的5例异常血红蛋白进行了一级结构分析。结果对5例异常血红蛋白一级结构分析,证明其分别为Hb G Taipei [β229(B4)Glu-Gly]2例;Hb G Coushatta[β22(B4)Glu-Ala]1例;Hb D Los Angeles[β121(GH4)Glu-Gln]1例和Hb Legnano [α141(HC3)Arg-Leu]1例。临河地区异常血红蛋白的基因频率为:α链异常5.77×10^(-5),β链异常1.15×10^(-4)。结论内蒙古临河地区共发现5种异常血红蛋白,其中Hb Legnano在我国为首次发现。

Objective To study the variant kand and gene frequency of the abnomal hemglobin in Inner Mongolia Linhe area. Methods We calcilated the gene frequency of the abnomal hemglobin used the Hardy - Weinberg law and analy-sised the five abnomal hemglobin chemistry structure that found in Inner Mongolia linhe area used the Methods of chemistry structure analysis. Results We found two Hb G Taipei [β22 (B4) Glu- Gly]; one Hb G Coushatta [β22 (B4) Glu -Ala]; one Hb D Los Angeles [β121 (GH4) Glu-Gln] and one Hb Legnano [α141 (HC3) Arg-Leu] . Conclueions Four kands abnomal hemglobin were found in Inner Mongolia Linhe erea.In all of them, Hb Legnano [α141 (HC3) Arg- Leu] is first that was found in China. The gene frequency of the abnomal hemglobin in Inner Mongolia Linhe area are a chian abnomal hemglobin 5.77×10 ~5; βchian abnomal hemglobin 1.15× 10 ~4.