Basic and clinical researchers for molecular diagnosis of abnormalities of testicular function

阐明人类睾丸功能的调控机制对性发育不良和男性不育等睾丸疾病的诊断和治疗具有重要意义。本研究采用分子生物学技术进行实验，得到以下结果.在DNA分析中发现了一个Y染色体的微小缺失。AZF应与删除的vegion一起包含。分子克隆已经将该区域缩小到Yg11.23.2。对4例完全型睾丸女性化患者进行DNA分析，发现外显子B、C、D和H各有一点突变。在35例原发性不育男性中，有3例同时检测到外显子B、C和D的单点突变.隐睾组织中AR mRNA和FSH-R mRNA的表达低于正常睾丸组织，而FSH-Bin mRNA的表达高于正常睾丸组织，由于不育男性睾丸组织中AR mRNA和FSH mRNA的表达降低，推测部分男性不育可能是由于睾丸AR或FSH-R异常所致。

It is very important for diagnosis and treatment of sex maldevelopment and testicular disorders such as male intertility to clarify the control mechanism of human testicular function. In the present research, the following results were obtained by experiments with molecular biological techniques.1. A minute deletion of Y chromosome was detected in the DNA analysis of idiopathiv interfile men. AZF should be included with the deleted vegion. Molecular cloning has narrowed down the region to Yg11.23.2. DNA analyzes of 4 cases of complete type of testicular feminization revealed that one-point mutation was detected in exon B,C,D and H in each case, respectively. In 3 cases of 35 idiopathic infertile men, one-point mutation(at exon B,C and D,respectively) was also detected.3. AR mRNA and FSH-R mRNA expressed in undescended testes were less than normal testes, whereas expression of inhibin mRNA was increased in undescended testes.Because, AR mRNA and FSH mRNA expressed in testes of infertile men were decreased, it is suspected that some male infertility could be caused by abnormality of testicular AR or FSH-R.