年轻母亲与较高的母源减数分裂 I 期非分离发生率：21 三体停滞期中环境暴露与遗传改变的相互作用。

Young mothers and higher incidence of maternal meiosis-I non- disjunction: Interplay of environmental exposure and genetic alterations during halt phase in trisomy 21.

机构信息

Institute of Science, Nirma University, S.G Highway, Ahmedabad, Gujarat, 382481, India.

出版信息

Reprod Toxicol. 2018 Aug;79:1-7. doi: 10.1016/j.reprotox.2018.04.014. Epub 2018 Apr 25.

DOI:10.1016/j.reprotox.2018.04.014

Abstract

Trisomy 21 is a genetic condition caused when chromosomes fail to separate during meiosis. We have studied conventional karyotype and QF-PCR using STR markers with high polymorphism and heterogeneity and the results were analyzed, to determine the paternal and meiotic origin of trisomy 21. This study was conducted using a detailed questionnaire to include: paternal, maternal, clinical and family history for various confounding factors such as age and regional environmental exposures where the parents resided. Out of 120 samples 95% (N = 114) were of maternal origin, including 92% (N = 105) of meiosis 1 errors and 8% (N = 9) meiosis 2 errors. Paternal origin accounted for 5% (N = 6) and were all due to meiosis-I errors. The higher incidence of maternal meiosis-I observed in the present study suggests that human trisomy 21 non-disjunction is a result of multiple factors contributing to the origin of the genetic condition.

摘要

21 三体是一种由染色体在减数分裂过程中未能分离而引起的遗传疾病。我们研究了常规核型和使用具有高多态性和异质性的 STR 标记的 QF-PCR，并对结果进行了分析，以确定 21 三体的父源和减数分裂来源。这项研究使用详细的问卷进行，包括：父母的年龄、居住地的区域环境暴露以及其他各种混杂因素（如父亲、母亲、临床和家族史）。在 120 个样本中，95%（N=114）来自母亲，包括 92%（N=105）减数分裂 I 错误和 8%（N=9）减数分裂 II 错误。父源占 5%（N=6），均归因于减数分裂 I 错误。本研究中观察到的母源减数分裂 I 较高的发生率表明，人类 21 三体非分离是多种因素导致遗传疾病起源的结果。