Deepika M L N, Srilekha Avvari, Pavani C Lalitha, Gupta Aryan, Nazneen Ridah, Lakshmi B Vijaya
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Begumpet, Hyderabad, India.
J Appl Genet. 2024 Dec 14. doi: 10.1007/s13353-024-00928-2.
Recurrent pregnancy loss (RPL) is defined as the spontaneous loss of two or more pregnancies before reaching viability. Diagnosis for couples with RPL usually involves only the female partner. However, it is seen that male partners contribute equally to the occurrence of spontaneous abortions as the Y chromosome harbors several genes that control spermatogenesis and the quality of sperms. Three non-overlapping regions (AZFa, AZFb, AZFc) in the distal half of Y chromosome have been reported to be associated with spermatogenesis in males with normal karyotype. Microdeletions in these three regions have been identified in many male partners with repeated abortions. The STS regions of the Y chromosome are prone to self-recombination, making it susceptible to deletions, thereby leading to poor sperm quality and fetal implantation failure. The present study aimed to identify the frequency and type of microdeletions among male partners of RPL women. Analysis revealed nearly 76% of cases revealed microdeletions, whereas no deletions were observed among controls in Y chromosome, suggesting a strong link between RPL and microdeletion in the AZF regions of the Y chromosome in the male partner.
复发性流产（RPL）定义为在胎儿具有生存能力之前发生两次或更多次自然流产。RPL夫妇的诊断通常仅涉及女性伴侣。然而，可以看出男性伴侣对自然流产的发生同样有影响，因为Y染色体含有几个控制精子发生和精子质量的基因。据报道，Y染色体远端一半的三个非重叠区域（AZFa、AZFb、AZFc）与核型正常男性的精子发生有关。在许多反复流产的男性伴侣中已发现这三个区域存在微缺失。Y染色体的STS区域容易发生自我重组，使其易受缺失影响，从而导致精子质量差和胎儿着床失败。本研究旨在确定RPL女性男性伴侣中微缺失的频率和类型。分析显示，近76%的病例存在微缺失，而在Y染色体的对照组中未观察到缺失，这表明男性伴侣的RPL与Y染色体AZF区域的微缺失之间存在密切联系。
