波利尼西亚人中苯丙氨酸羟化酶基因单倍型：进化起源及与严重苯丙酮尿症相关等位基因的缺失
Phenylalanine hydroxylase gene haplotypes in Polynesians: evolutionary origins and absence of alleles associated with severe phenylketonuria.
作者信息
Hertzberg M, Jahromi K, Ferguson V, Dahl H H, Mercer J, Mickleson K N, Trent R J
机构信息
Molecular Biology Laboratory, University of Sydney, NSW, Australia.
出版信息
Am J Hum Genet. 1989 Mar;44(3):382-7.
A total of 630 haplotypes for the phenylalanine hydroxylase (PAH) gene locus were established in five groups of Polynesians comprising Samoans, Tongans, Cook Islanders, Maori, and Niueans. Considerable genetic continuity was demonstrated between these widely dispersed populations, since three common haplotypes (4, 1, and 7) constituted over 95% of alleles. A control group of individuals from Southeast Asia shared the same major haplotypes, 4, 1, and 7, with Polynesians. These data provide further support for the theories of genetic homogeneity and of Asian affinities of the Polynesian precursor populations. The absence of severe phenylketonuria (PKU) in both Polynesians and Southeast Asians is consistent with the lack of PAH haplotypes 2 and 3, on which the severe PKU mutants have arisen among Caucasians.
在包括萨摩亚人、汤加人、库克岛民、毛利人和纽埃人在内的五组波利尼西亚人中，共确定了630种苯丙氨酸羟化酶（PAH）基因座单倍型。这些分布广泛的人群之间表现出相当大的遗传连续性，因为三种常见单倍型（4、1和7）构成了超过95%的等位基因。来自东南亚的一个对照组个体与波利尼西亚人共享相同的主要单倍型，即4、1和7。这些数据为波利尼西亚先驱人群的遗传同质性和亚洲亲缘关系理论提供了进一步支持。波利尼西亚人和东南亚人中均不存在严重苯丙酮尿症（PKU），这与缺乏PAH单倍型2和3一致，而在白种人中，严重PKU突变体正是在这两种单倍型上出现的。
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