5例无精症病人染色体核型及YRRM1、DYS240基因检测

目的：探讨无精症病人的发病原因。方法：对4例Y染色体有结构畸变、1例46，XX男性无精症病人及10例正常有生育力的男性用PCR方法进行YRRM1、DYS240基囚的检测。结果：10例有生育力核型正常的男性及2例inv（Y）病人均检出YRRM1和DYS240基因片段，而2例del（Y）病人未能检出YRRM1及DYS240基因片段，但他们的父亲均有正常的染色体及YRRM1和DYS基因片段，46，XX男性经检测证实有SRY基囚的存在而无YRRM1和DYS240基因。结论：以上结果表明，发生在Y染色体长臂异染色质区及短臂末端的倒位不会引起YRRM1、DYS240基因的缺失，而Y染色体长臂q11以远部位的缺失则都有YRRM1和DYS240基因的缺失，是造成无精症的原因。

Study on YRRM1,DYS240 genes and karytype in the 5 patients with azoospermia

Objectives: The cytogenetic study and YRRM1, DYS240 genes analysis were made on 5 male infertility patients with azoospermia and 10 normal fertile men. Methods: of the 5 patients, 1 case had 46,XX karytype and other 4 cases had structral aberrations of Y chromesome. The 10 fertile men had normal karytype. Using the genomic DNA from these patients and 10 normal fertile men as the templates, YRRM1 and DYS240 gene fragments were amplified by PCR. Results:The amplified results from the 10 fertile men and 2 cases with 46, X,inv (Y) were positive,while that from 2 cases with 46,X,del (Y) and 1 case with 46,XX man having SYR gene were negative.Both the fathers of 2 cases with 46,X,del (Y) had normal karytype and YRRM1, DYS 240 gene fragments. Conclusions: The ablove results suggested that the inversion two breakpoints in the heterochromatin of long(q) arm and terminal of short (p) arm of Y chromosome should not cause the missing of YRRM1 and DYS 240 genes and that the deletion in the distal euchromatin of long arm of Y chromosome should be attributed to the loss of YRRM1 and DYS 240 genes which accounted for azoospermia.