Hill A V, Gentile B, Bonnardot J M, Roux J, Weatherall D J, Clegg J B
Am J Hum Genet. 1987 May;40(5):453-63.
Analysis of copy number variants of the duplicated alpha-, zeta-, and gamma-globin genes in eastern Polynesians revealed a high frequency of both triplicated-zeta-gene chromosomes and a specific alpha thalassemia deletion. This deletion and a novel restriction-enzyme-site polymorphism associated with a zeta zeta zeta chromosome are found only in Melanesians and Polynesians. Analysis of alpha-globin restriction-enzyme haplotypes indicated further similarities to Melanesians but suggested an additional non-Melanesian genetic component in eastern Polynesia. Several globin gene alleles showed evidence of marked frequency fluctuations due to genetic drift.
对东波利尼西亚人重复的α-、ζ-和γ-珠蛋白基因的拷贝数变异分析显示,三重复ζ-基因染色体和一种特定的α地中海贫血缺失的频率都很高。这种缺失以及与ζζζ染色体相关的一种新的限制性酶切位点多态性仅在美拉尼西亚人和波利尼西亚人中发现。α-珠蛋白限制性酶切单倍型分析进一步表明与美拉尼西亚人相似,但提示东波利尼西亚存在额外的非美拉尼西亚遗传成分。由于遗传漂变,几个珠蛋白基因等位基因显示出明显的频率波动迹象。