一例Y染色体长臂大片段缺失患者的缺失定位分析

目的 从分子遗传学角度对1例无精子症患者Y染色体无精子因子(azoospermia factor,AZF)区域缺失片段进行定位分析.方法 根据Y染色体遗传物理图谱,采用多重PCR技术扩增Y染色体AZFa区sY84、sY86、sY87,AZFb区sY102、sY117、sY118、sY119、sY115、DYS132、DYS385、sY1015、sY121、sY125、sY127、sY129、sY134,AZFd区sY152,AZFc区sY1258、sY1291、sY254、sY255、sY158、sY1201,Yq末端sY160等24个序列标签位点(sequence tag sites,SIS).结果 所扩增的SIS只有AZFa区sY84、sY86、sY87及AZFb区sY102、sY117、sY118、sY119、sY115、DYS132有特异扩增条带,其余15个STS均未见特异扩增条带.患者Y染色体缺失断裂点位于AZFb区sY115和DYS385之间约8577 bp范围内.为AZFb区部份缺失,AZFd区、AZFc区及Yq末端缺失.结论 用分子遗传学技术进行STS分析可精确标明Y染色体AZF区域缺失片段.

Positioning analysis of the Yq11 deletion in a patient with azoospermia

OBJECTIVE: To locate the deletion region of an azoospermic patient with a large deletion on his Y chromosome long arm. METHODS: Multiplex polymerase chain reaction was used to amplify fifteen sequence tagged sites (STS), namely sY84, sY86, sY87 in AZFa, sY102, sY117, sY118, sY119, sY115, DYS132, DYS383, sY1015, sY121, sY125, sY127, sY129 and sY134 in AZFb, sY152 in AZFd, sY1258, sY1291, sY254, sY255, sY158 and sY1201 in AZFc, and sY160 in Yq12. RESULTS: Only sY84, sY86, sY87, sY102, sY117, sY118, sY119, sY115 and DYS132 could be amplified while the others were negative. The breakpoints were found to locate in an area between AZFb sY115 and DYS383 spanning 8577. CONCLUSION: This study provided the exact breakpoints on Y chromosome AZF region in the patient.