Xu Jia-jie, Li Sen-kai, Li Qiang, Fan Ju-feng, Wang Yan-ping, Li Yang-qun, Shen Yan
Plastic Surgery Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Zhonghua Zheng Xing Wai Ke Za Zhi. 2006 Mar;22(2):139-41.
To explore possible molecular mechanism of hypospadias and relationship of the mutation of SRD5A2 gene to hypospadias.
96 blood samples from the patients with hypospadias were obtained and DNA was extracted from blood leukocytes. Polymerase chain reaction and direct sequencing were performed to analyze the coding regions of SRD5A2 gene.
8 mutations were detected from 14 cases, including 5 missense mutations, 1 synonymous mutation, 1 nonsense mutation and 1 frameshift mutation. The mutations are in 1st, 4th and 5th exon. Gln6stop, His232His, Phe234Leu and frameshift mutations are novel.
Exon 4 is a hot spot region of mutation within SRD5A2 gene, and about 10 percent of hypospadiac patients complicated with SRD5A2 dysfunction or deficiency.
探讨尿道下裂可能的分子机制以及SRD5A2基因突变与尿道下裂的关系。
获取96例尿道下裂患者的血样，从血白细胞中提取DNA。采用聚合酶链反应和直接测序法分析SRD5A2基因的编码区。
14例患者中检测到8个突变，包括5个错义突变、1个同义突变、1个无义突变和1个移码突变。这些突变位于第1、4和5外显子。Gln6stop、His232His、Phe234Leu和移码突变是新发现的。
第4外显子是SRD5A2基因的突变热点区域，约10%的尿道下裂患者合并SRD5A2功能障碍或缺陷。
