分析一例少见的Y染色体大部分缺失的无精症

Analysis of a voluminous Y-chromosome deletion

目的:报告一例Y染色体大部分缺失的无精症患者,并应用遗传物理图谱对Y染色体断裂位点进行定位,探导Y染色体异常与无精症的关系。方法:采用G显带、多重PCR技术对患者进行染色体核型分析、Y染色体微缺失检测。结果:患者染色体核型为46,X,del(Y)(q11.2),Y染色体微缺失检测的15个序列标签位点中,只有AZFa区SY82、SY84、SY86和AZFb区SY124、SY127、SY128扩增。根据遗传物理图谱推断断裂位点为Y q11.23。结论:Y染色体大部分缺失是引起该患者无精的原因。

Objective：To investigate the relationship between Y chromosome abnormality with azoospermia,an infrequent patient of voluminous Y chromosome deletion was determined by the physical map of AZF.Methods：G-band and multiple polymerase chain reaction were used to analysis cytogenetic karyotype and Y chromosome microdeletion.Results：The karyotype of this patient was 46,X,del（Y）（q11.2）,only SY82,SY84,SY86 in AZFa and SY124,SY127,SY128 in AZFb were amplified in all 15 STS.Therefore the breakpoint was Yq11.23.Conclusion：Y chromosome deletion is the cause that lead to azoospermia of the patient.