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中国东南部汉族和畲族人群中 STR D21S1446 高度纯合子的高发率。

The high incidence of STR D21S1446 homozygosity in Han and She populations living in South Eastern China.

机构信息

Department of Obstetrics and Gynecology, Xi'an Jiaotong University Medical School Second Affiliated Hospital, Xi Wu Road 157, Xi'an City, Xi'an, 710004, China.

出版信息

J Assist Reprod Genet. 2012 Apr;29(4):337-41. doi: 10.1007/s10815-011-9699-1. Epub 2011 Dec 23.

Abstract

PURPOSE

This study investigated the allelic frequency of 4 short terminal repeats (STRs) in Han and She populations from eastern China.

METHODS

DNA samples from Han (N = 110) and She (N = 110) healthy subjects were amplified using PCR and primers specific for the STRs. D21S11 and D21S1446 (chromosome 21) and D18S865 and D18S535 (chromosome 18). The frequency and homozygocity of different STRs were evaluated.

RESULTS

For both populations, D21S11 and D18S535 were more polymorphic than D21S1446 and D18S865, and the D21S1446 1 allele was very common (48.6% and 55.0% for the Han and She groups, respectively).The Han and She groups significantly differed from one another in respect to the distribution of D21S11, D18S865, and D18S535 allelic frequency (all P -values ≤ 0.48) but had a similar allelic distribution for D21S1446 (P = 0.106). D21S1446 was found to be homozygous about 50% of the time which was significantly greater compared to the other STRs analyzed.

CONCLUSION

This study found that the Han and She differ genetically at 3 autosomal STRs located on chromosome 18 and 21. The STR D21S1146 was often homozygous within these groups, indicating it would be poor marker for analyzing trisomy within these populations.

摘要

目的

本研究调查了中国东部汉族和畲族人群中 4 个短串联重复序列(STRs)的等位基因频率。

方法

采用 PCR 扩增技术和特定的 STRs 引物,对汉族(N=110)和畲族(N=110)健康受试者的 DNA 样本进行扩增。使用的 STRs 包括 D21S11 和 D21S1446(21 号染色体)以及 D18S865 和 D18S535(18 号染色体)。评估了不同 STRs 的频率和纯合性。

结果

对于这两个群体,D21S11 和 D18S535 的多态性均高于 D21S1446 和 D18S865,且 D21S1446 1 等位基因非常常见(汉族和畲族群体的频率分别为 48.6%和 55.0%)。汉族和畲族群体在 D21S11、D18S865 和 D18S535 等位基因频率的分布上存在显著差异(所有 P 值均≤0.48),但 D21S1446 等位基因的分布相似(P=0.106)。D21S1446 约有 50%的时间为纯合子,与分析的其他 STRs 相比显著更高。

结论

本研究发现汉族和畲族在位于 18 号和 21 号染色体上的 3 个常染色体 STRs 上存在遗传差异。STR D21S1146 在这两个群体中常常为纯合子,表明其作为分析这两个群体三体性的标记不佳。

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