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，对于性发育不全和男性中间症等睾丸疾病的诊断和治疗具有重要意义。在本研究中，通过分子生物学技术的实验，获得了以下结果。在特发性骨髓瘤患者的DNA分析中检测到微小的Y染色体缺失。AZF应包括在删除的区域中。分子克隆已将该区域缩小至11.23.2日元。对4例完全型睾丸女性化的DNA分析显示，每例均检测到B、C、D、H外显子1点突变。在35例特发性不育患者中，有3例同时检测到单基因突变(分别位于外显子B、C和D)。AR和FSH-R在睾丸中的表达低于正常睾丸，而抑制素在睾丸中的表达高于正常睾丸，提示不育男性睾丸AR和FSH-R表达降低，推测部分男性不育可能与睾丸AR或FSH-R异常有关。

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.