男性不育患者ICSI治疗后子代Y染色体微缺失基因的研究

目的 探讨亲代胞浆内单精子注射技术(intracytoplasmic sperm injection,ICSI)治疗时精液情况与子代AZF基因缺失率的相关性.方法 应用多重PCR技术,检测81例ICSI妊娠、42例体外受精(in vitro fertilization,IVF)妊娠及50例自然妊娠的男性及其子代外周血中AZF基因缺失情况.结果 自然妊娠组亲代、IVF组、ICSI组亲代AZF缺失率比较差异无统计学意义(0,0,6.2％,P=0.05),自然妊娠组子代与IVF组、ICSI组子代AZF缺失率比较差异有统计学意义(2％,0,10.3％,P=0.02).ICSI组中亲代精液正常者、少精症、严重少精症、梗阻性无精症者AZF缺失率比较差异无统计学意义(0,4.8％,10.5％,12.5％,P=0.33),ICSI组中四组子代AZF缺失率比较差异有统计学意义(0,4.5％,13.6％,27.8％,P=0.02).结论 IVF、ICSI的操作过程不会增加Y染色体微缺失的发生率及扩大AZF缺失片段,子代Y染色体AZF缺失的新生突变可能与亲代精液情况存在关联.

Association between ICSI treatment for male infertility and Y-chromosome microdeletion in the offspring

Objective To assess the association between ICSI treatment and AZF gene in the offspring.Methods Blood samples were collected from the fathers and their sons,including 8 1 cases of ICSI,4 2 cases of IVF,and 5 0 cases of natural pregnancy.AZF gene was tested by M-PCR.Results There were no significant differences in AZF gene microdeletion among IVF,ICSI and natural pregnancy groups (0,0,6.2％,P =0.05).However,there were significant differences in the offspring groups among these three groups (2％,0,10.3％,P =0.02).And there were no significant differences in the ICSI parent groups of normal semen,oligospermia,severe oligospermia,and obstructive azoospermia (0,4.8％,10.5％,12.5％,P =0.33).However,there was significant in the ICSI offspring groups among these four groups (0,4.5％,13.6％,27.8％,P=0.02).Conclusion IVF,ICSI treatment does not increase the Y chromosome AZF microdeletions incidence and does not expand AZF deletion fragments.De novo AZF microdeletion of offspring may be associated with parental semen situation.