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亚太地区维生素D结合蛋白(GC)亚型的群体遗传学:GC基因座新等位基因的描述。

Population genetics of the vitamin D binding protein (GC) subtypes in the Asian-Pacific area: description of new alleles at the GC locus.

作者信息

Kamboh M I, Ranford P R, Kirk R L

出版信息

Hum Genet. 1984;67(4):378-84. doi: 10.1007/BF00291395.

Abstract

Isoelectric focussing (IEF) in thin layer polyacrylamide gels pH range 4-6.5 has been used to analyse the GC phenotypes of 4233 individuals from 28 different population groups in the Asian, Pacific, and Australian area. Because this technique reveals subtypes of the common GC1 allele, there is almost a two-fold increase in the mean heterozygosity at the GC locus using IEF compared with conventional electrophoresis. The highest frequency (above 50%) of the GC1S allele was encountered in Indian populations, reflecting genetic affinities with Europeans. By comparison, east and south east Asians are unique offing maximum values of the GC1F allele (50%). With the exception of a few Pacific populations which show similar frequencies to east Asians, all other groups in the Pacific area, including Australia, have values of GC1F similar to GC1S ranging from 27% to 40%. The GC2 frequency in most populations varies from 20% to 30%. However, some Polynesian groups have values up to 40% and Australian Aborigines less than 10%. Among other alleles, GC1A1 is found to be widely distributed among Australian Aborigines and Melanesians and occurs sporadically in Polynesians, Micronesians, and in the Lesser Sunda Islands. Four new alleles, GC1C24, GC1C35 Aborigine, GC1A21, and GC*1A22 are described. The gene frequency data at the GC locus has been used to calculate Nei genetic distances between the populations studied.

摘要

在pH范围为4 - 6.5的薄层聚丙烯酰胺凝胶中进行等电聚焦(IEF),已用于分析亚洲、太平洋和澳大利亚地区28个不同人群组的4233名个体的GC表型。由于该技术揭示了常见GC1等位基因的亚型,与传统电泳相比,使用IEF时GC位点的平均杂合度几乎增加了两倍。GC1S等位基因的最高频率(超过50%)出现在印度人群中,这反映了与欧洲人的遗传亲缘关系。相比之下,东亚和东南亚人独特地呈现出GC1F等位基因的最大值(50%)。除了少数与东亚人频率相似的太平洋人群外,太平洋地区的所有其他群体,包括澳大利亚人,GC1F的值与GC1S相似,范围从27%到40%。大多数人群中GC2的频率在20%到30%之间变化。然而,一些波利尼西亚群体的值高达40%,而澳大利亚原住民则低于10%。在其他等位基因中,发现GC1A1在澳大利亚原住民和美拉尼西亚人中广泛分布,在波利尼西亚人、密克罗尼西亚人和小巽他群岛中偶尔出现。描述了四个新等位基因,即GC1C24、GC1C35原住民、GC1A21和GC*1A22。已使用GC位点的基因频率数据来计算所研究人群之间的内氏遗传距离。

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