摘要
目的检测严重生精功能障碍患者外周血染色体及Y染色体微缺失,探讨Y染色体微缺失的遗传机制,为拟行ICSI(intracytoplasmic sperm injection,ICSI)技术助孕的患者提供遗传咨询。方法按常规方法分析严重生精功能障碍患者的外周血淋巴细胞核型,对核型正常的患者,用多重PCR技术对Y染色体AZF(azoospermua fctor,AZF)所在区域的 15个序列标签位点(sequence tag site,STS)进行扩增,应用琼脂糖凝胶电泳分离扩增产物,对有AZF缺失的患者,随访其父亲的生育及AZF缺失情况。结果 71例无精子症患者中有25例染色体核型异常,异常率35．1％,1例核型为46,XY (小Y);75例严重少精子症患者中有4例46,XY(小Y);45例染色体核型正常的严重生精功能障碍患者,14例发生 AZF缺失(31．11％)。严重生精功能障碍患者总遗传缺陷发生率26．7％。所有AZF缺失患者父亲平均生育4．0个子女,其中有5例AZF缺失患者的父亲接受AZF检测,均无缺失。结论 1．染色体异常和AZF的缺失是引起无精子和严重少精子并造成男性不育的重要原因之一。AZF缺失可能并非有父亲遗传而来,其遗传机制尚有待进一步探讨。2．ICSI助孕前,夫妇双方须行遗传学检查以避免遗传缺陷后代的出生。
Objective： To investigate the genetic mechanism of microdeletion on Y chromosome and give genetic counselling to patients with serious spermatogencsis failure before ICSI. Methods ： The peripheral blood chromosome analysis of 146 cases was applied. Fifteen gene - specific primers on Y chromosome where azoospermia factor loci were amplified from peripheral blood samples taken from 45 patients with normal chromosome karyotype by using multiplex polymerase chain reaction （PCR）, scanning reaction products using agarose gel electrophoresis. Results： Among 71 cases with azoospermia, abnormalities in chromosomal structure and number were found in 25 （25/71 ） cases, and among 75 cases with severe oligozoospermia, four cases with the karyotype of 46xy, little Y were found. Among 45 patients with normal chromosomal structure and number received AZF detection, microdeletion rate of AZF was 31.11% （14/45）. No deletion was observed in father＇s blood of five patients with severe oligozoospermia. Conclusions： ①Chromosomal abnormality and Y chromosome microdeletion is one of the important factors that could lead to male spermatogenesis failure. ②Y chromosome microdeletion maybe not inherit from fathers. Genetic counselling is clearly indicated for these couples before ICSI.
出处
《中国优生与遗传杂志》
2006年第2期91-93,100,共4页
Chinese Journal of Birth Health & Heredity
