1052例Y染色体微缺失检测及14例微缺失家系调查

Y chromosome microdeletions: Detection in 1052 infertile men and analysis of 14 of their families

目的:通过对不育患者进行Y染色体微缺失筛查以及部分微缺失患者的家系追踪调查,探讨Y染色体微缺失父子间的自然垂直遗传特点。方法:对1 052例患者进行Y染色体无精子因子(AZF)检测,并对12例AZFc缺失患者,1例AZFb和1例AZFb+c缺失患者进行家系追踪调查,绘制AZF缺失患者男性直系家族成员男性不育家系系谱图。结果:1 052例患者,共发现Y染色体微缺失89例,其中AZFc缺失56例,AZFa缺失6例,AZFb缺失5例,AZFb+c缺失14例,AZFa+b+c缺失8例。在追踪调查的AZF缺失家系中,AZFb和AZFb+c仅先证者存在缺失,12例AZFc缺失患者中5例重度少精子症患者存在家族垂直遗传,另外1例重度少精子症患者和6例无精子症患者家系中除先证者有缺失外,其家系成员未发现缺失。结论:通过对Y染色体微缺失患者进一步的家系调查发现,仅重度少精子症的AZFc缺失患者可能由父亲垂直遗传而来,但与父系表型有差异。对AZF缺失的无精子症患者,无论何种缺失类型,由父亲垂直遗传而来的可能都不大。

Objective： To investigate the characteristics of father-to-son vertical transmission of Y chromosome microdeletions by detection of Y chromosome microdeletions in infertile men and analysis of some of their families. Methods ： We detected the Y chromosome azoospermia factor （AZF） microdeletions in the peripheral blood of 1 052 infertile males, investigated the paternal relatives of 12 cases of AZFc, 1 case of AZFh and 1 case of AZFb ＋ c microdeletions, and drew the family tree diagrams of the infertile paternal relatives according to the findings. Results： Among the 1 052 infertile patients, 89 （9.73%） were found with Y chromosomal mierodeletions, including 56 with AZFc, 6 with AZFa, 5 with AZFb, 14 with AZFb ＋ c, and 8 with AZFa ＋ b ＋ c deletion. The investigation of the 14 patients＇families revealed 1 case of AZFb and 1 case of AZFb ＋ c deletion de novo. Among the 12 cases of AZFc deletion, vertical heredity was found in 5 patients with severe oligozoospermia, but not in the other 7 with azoomspermia. Conclusion ： AZFe deletion may be vertically inherited from the father in severe oligozoospermia patients, and it is different from the paternal phenotype, while in azoospermia patients, AZF deletion, whatever type it may be, is less likely to be associated with vertical paternal heredity.