Y染色体末端缺失患者的细胞遗传学及分子生物学分析

Analysis of cytogenetics and molecular biology in the patient with chromosome Yq12 deletion

目的确定1例少弱精子患者G显带和C发现Yq末端缺失病例的核型,探讨YYq12缺失与表型关系。方法应用实验室常规染色体标本制备方法进行G显带和C显带,并应用Yq12区DYZ1探针和Yp11.1-q11.1区DYZ3探针与病例的中期分裂相进行荧光原位杂交(fluorescence in situ hybridization,FISH),同时应用PCR技术对患者进行了Y染色体微缺失的检测。结果G显带、C显带和FISH检测结果一致,均显示为Yq12区的缺失;Yq11区生精基因微缺失检测未发现该患者存在缺失。结论FISH结合细胞遗传学检测可以明确诊断染色体微小结构异常,Yq12区缺失可能是导致男性不育的原因之一。

Objective : To determine the karyotype of a case with oligozoospermia whose Y chromosome term of long arm was deletion by G - banding, and search the relations between Yq12 deletion with phenotype. Methods : G - banding and C - banding was performed for cytogenetic analysis, fluorescence in situ hybridization (FISH) technique was performed to analyze the case by using DYZ1 probe of Yq12 and DYZ3 probe of Yp11.1 - q11.1, at the same time, Y chromosome microdeletion was also performed by PCR technique. Results: Yq12 deletion was determined by G -banding, C -banding and FISH; no microdeletion of AZF in Yql 1 was found. Conclusion: Combining with cytogenetic analysis, FISH technique can surely determine the chromosome structural abnormality, the deletion of Yq12 zone may be one of the reasones to lead male infertility.