男性假两性畸形朝鲜族姐妹中5α还原酶2型的一种新移码突变

• 作 者: Kim S.H. Kim K.S. Kim G.H. 张旸
• 机 构: College of Medicine University of Ulsan Department of Obstetrics and Gynecology 388- 1 Poongnap- do
• 出 处: 世界核心医学期刊文摘(妇产科学分册)
• 发表日期: 2006年Z1期
• 关键词: 移码突变 男性假两性畸形 还原酶 朝鲜族 雄激素受体基因 终止信号 外显子 原发闭经 分子特征 基因诊断

Objective: To describe two cases of 5α - reductase deficiency and the identification of a novel frameshift mutation in this sibling pair. Design: Case report. Setting: An adolescent clinic at a university hospital. Patient(s): A 14- year- old girl and her younger sister, who presented with primary amenorrhea, deepening of the voice, and clitoromegaly. Intervention(s): Deoxyribonucleic acid was extracted from peripheral blood, and 8 exons of the androgen receptor gene and 5 exons of the steroid 5α - reductase type 2 gene (encoded by SRD5A2 gene)- were amplified by polymerase chain reaction and subjected to sequence analyses. Main Outcome Measure(s): Genetic diagnosis of 5α - reductase deficiency. Result(s): There was no evidence of a genetic abnormality in the 8 screened exons of the androgen receptor gene, but exon 4 of the SRD5A2 gene showed a novel homozygous deletion of the thymine at nucleotide position c.655 (c.655delT), leading to a frameshift mutation predicted to result in an abnormally long protein with an extended termination signal. Conclusion(s): The molecular characterization of the mutation can be a relevant tool for a correct diagnosis of 5α - reductase deficiency.

Objective: To describe two cases of 5α - reductase deficiency and the identification of a novel frameshift mutation in this sibling pair. Design: Case report. Setting: An adolescent clinic at a university hospital. Patient (s): A 14- year- old girl and her younger sister, who presented with primary amenorrhea, deepening of the voice, and clitoromegaly. Intervention (s): Deoxyribonucleic acid was extracted from peripheral blood, and 8 exons of the androgen receptor gene and 5 exons of the steroid 5α-reductase type 2 gene (encoded by SRD5A2 gene) - were amplified by polymerase chain reaction and subjected to sequence analyzes. Main Outcome Measure (s): Genetic diagnosis of 5α - reductase deficiency. Result (s): There was no evidence of a genetic abnormality in the 8 screened exons of the androgen receptor gene, but exon 4 of the SRD5A2 gene showed a novel homozygous deletion of the thymine at nucleotide position c.655 (c.655delT), leading to a frameshift mutation predicted result to a Conclusion (s): The molecular characterization of the mutation can be a relevant tool for a correct diagnosis of 5α - reductase deficiency.