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

被引：6

作者：

Saiyed, Nazia ^{[1
]}

Bakshi, Sonal ^{[1
]}

Muthuswamy, Srinivasan ^{[2
]}

Agarwal, Sarita ^{[2
]}

机构：

[1] Nirma Univ, Inst Sci, Ahmadabad 382481, Gujarat, India

[2] Sanjay Gandhi Post Grad Inst Med Sci, Rae Bareli Rd, Lucknow 226014, Uttar Pradesh, India

来源：

REPRODUCTIVE TOXICOLOGY | 2018年 / 79卷

关键词：

Down syndrome; QF-PCR; Maternal meiosis-II; Oocyte; Halt phase; LOW SOCIOECONOMIC-STATUS; DOWN-SYNDROME; MEIOTIC STAGE; BIRTH-DEFECTS; RISK; AGE; RECOMBINATION; CHROMOSOME-21; ASSOCIATION; PESTICIDES;

D O I：

10.1016/j.reprotox.2018.04.014

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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-1 errors. The higher incidence of maternal meiosis-1 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. (C) 2018 Elsevier Inc. All rights reserved.

引用

页码：1 / 7

页数：7