XÁC ĐỊNH ĐỘT BIẾN CẤU TRÚC NHIỄM SẮC THỂ TRÊN MỘT SỐ CẶP VỢ CHỒNG HIẾM MUỘN

Abstract

Objective: Chromosomal structural abnormalities are a common cause of genetic defects and are known to be an important cause of fertility problems. Therefore, chromosome testing and analysis is a simple and effective tool in finding the genetic causes of fertility failure in infertile couples, and at the same time helping to provide genetic advice to contribute to reproductive health care in the community and society. Materials and methods: 250 couples diagnosed with infertility were tested for chromosomes at the Center for Gene and Protein Research - Hanoi Medical University. Convenient sampling method and cross-sectional descriptive design. Results: 7.2% of infertile couples carry structural chromosome mutations, of which chromosomal translocations are found at a rate of 2.4%, reciprocal translocations are recorded to occur between chromosomes (1;18), (1;14), (4;12), (5;9), (3;21), (1;5) and Robertsonian translocations occur between chromosomes (13;14), (14;22), (15;21). Chromosomal polymorphisms account for 4.8% of infertile couples, of which the variants inv(9) (2,4%), 1qh+ (2,2%) and 16qh+ (0,2%). Conclusions: 7,2% of infertile couples carry structural chromosome mutations, of which chromosome translocations are found at a rate of 2,4% and chromosome polymorphisms at a rate of 4,8%.