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目的探讨男性不育患者中Y染色体长臂AZF区域、短臂SRY基因的基因缺失和染色体改变所起的作用。方法对301例男性无精或少精症患者采用PCR技术进行基因(AZFa、AZFb、AZFc和SRY)微缺失的检测和染色体核型的分析。结果 301例患者中104例发现基因缺失,其中30例涉及AZFa缺失,40例涉及AZFb缺失,37例涉及AZFc缺失,31例涉及SRY缺失。10例染色体核型为47,XXY,1例为染色体易位46,XY,t(Dq;Dq),其余均为正常核型。1例染色体核型为47,XXY的患者AZFa缺失。结论 Y染色体上的SRY基因和AZF微缺失可能是导致男性不育发生的重要原因之一。应对患者尽早同时进行基因微缺失和染色体核型分析。
Objective To investigate the gene deletion and chromosomal alterations of SRY gene in the long arm of Y chromosome and short arm in the male infertility patients. Methods The genomic DNA (AZFa, AZFb, AZFc and SRY) microdeletion and chromosomal karyotype analysis of 301 cases of azoospermia or oligozoospermia were detected by PCR. RESULTS: Of the 301 patients, 104 were found to have gene deletion, 30 of which involved AZFa deletion, 40 involved AZFb deletion, 37 involved AZFc deletion and 31 involved SRY deletion. The karyotypes of the 10 cases were 47 and XXY, and the other cases were the chromosomal translocation 46, XY, t (Dq; Dq). The rest were normal karyotypes. One case of chromosomal karyotype 47, XXY patients AZFa deletion. Conclusion The micro-deletion of SRY gene and AZF on Y chromosome may be one of the important causes of male infertility. Patients should be treated for simultaneous gene microdeletions and chromosome karyotyping as early as possible.