伊朗南部人群13、18、21、X和Y染色体上21个STR标记的遗传变异

Jamileh Saberzadeh, M. Miri, Mohammad Bagher Tabei, Mehdi Dianatpour, Majid Fardaei
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引用次数: 4

摘要

近年来,定量荧光聚合酶链反应(QF-PCR)作为一种快速、高通量、灵敏的产前诊断常见染色体非整倍体的方法被广泛接受。由于短串联重复序列(STRs)是QF-PCR技术的基石,因此选择最具多态性的STR标记是成功进行QF-PCR分析的关键步骤。各STR标记的遗传变异参数在不同群体中存在差异。在这项研究中,我们调查了来自伊朗南部妇女的1000份羊水样本中13、18、21、X和Y染色体上21个STR标记的大小、频率、杂合性、多态性信息含量、辨别能力和其他遗传多态性数据。结果表明,所有21个STR标记在我们的群体中都具有高度多态性和信息性。标记的杂合度为62 ~ 91.1%,多态性信息含量为0.61 ~ 0.91,鉴别力为0.830 ~ 0.976。基因座D18S386多态性最多,而基因座DXYS218多态性最少。本研究提供了关于21个STR标记在伊朗南部人群中诊断染色体13、18、21、X和Y非整倍体的效率的广泛数据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population.
Quantitative fluorescent polymerase chain reaction (QF-PCR), in recent years, has been accepted as a rapid, high throughput, and sensitive method for prenatal diagnosis of common chromosomal aneuploidies. Since short tandem repeats (STRs) are the cornerstone of QF-PCR technique, selection of the most polymorphic STR markers is an essential step for a successful QF-PCR assay. The genetic variation parameters of each STR marker differ among different populations. In this study, we investigated the size, frequency, heterozygosity, polymorphism information content, power of discrimination, and other genetic polymorphism data for 21 STR markers on chromosomes 13, 18, 21, X, and Y in 1000 amniotic fluid samples obtained from south Iranian women. Our results showed that all the 21 STR markers are highly polymorphic and informative in our population. The heterozygosity, polymorphism information content, and power of discrimination of the markers were 62-91.1%, 0.61-0.91, and 0.830-0.976, respectively. The locus D18S386 was the most polymorphic STR, while the locus DXYS218 was the least polymorphic STR among all the studied STRs. The present study has provided extensive data regarding the efficiency of the 21 STR markers for diagnosis of chromosomes 13, 18, 21, X, and Y aneuploidies in the south Iranian population.
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