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日本人群中358个二核苷酸重复标记位点的杂合性和等位基因频率。

Heterozygosities and allelic frequencies of 358 dinucleotide-repeat marker loci in the Japanese population.

作者信息

Yamane-Tanaka Y, Kogawa K, Tanaka T, Nakamura Y, Isomura M

机构信息

Laboratory of Molecular Medicine, University of Tokyo, Japan.

出版信息

J Hum Genet. 1998;43(3):165-8. doi: 10.1007/s100380050062.

Abstract

We examined 64 normal Japanese chromosomes to determine the heterozygosities and allelic frequencies of 358 dinucleotide-repeat marker loci spanning the whole human genome. Comparisons of the data for each marker in the Japanese population sample with data for the same markers among Caucasian samples in the Genome Database (GDB) revealed a slightly lower average of heterozygosity in Japanese (71% vs 79%). Although the majority of the markers were as informative as in Caucasians, some in our sample were uninformative due to low heterozygosity; 38 loci revealed heterozygosities lower than 50% and 11 of these were less than 30%. Furthermore, allelic distributions at many of the marker loci were quite different in the two racial groups. Since such differences will influence statistical analyses between markers and disease loci, our data will be essential for linkage analyses, sib-ship pair analyses, and association studies involving the Japanese population. Therefore we have archived this database on a home page on the Internet (http:@www.ims.u-tokyo.ac.jp/nakamura/Yamane.html++ +).

摘要

我们检测了64条正常的日本染色体,以确定覆盖整个人类基因组的358个二核苷酸重复标记位点的杂合性和等位基因频率。将日本人群样本中每个标记的数据与基因组数据库(GDB)中高加索人样本中相同标记的数据进行比较,发现日本人的平均杂合性略低(71%对79%)。尽管大多数标记与高加索人一样具有信息性,但我们样本中的一些标记由于杂合性低而无信息性;38个位点的杂合性低于50%,其中11个低于30%。此外,许多标记位点的等位基因分布在两个种族群体中差异很大。由于这些差异会影响标记与疾病位点之间的统计分析,我们的数据对于涉及日本人群的连锁分析、同胞对分析和关联研究至关重要。因此,我们已将该数据库存档于互联网上的一个主页(http:@www.ims.u-tokyo.ac.jp/nakamura/Yamane.html++ +)。

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