Chen Ye, Wang Wei, Wang Xiu-min, Dong Zhi-ya, Xiao Yuan, Ni Ji-hong, Wang De-fen
Department of Pediatrics, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Zhonghua Er Ke Za Zhi. 2009 Oct;47(10):789-91.
To detect CYP17A1 gene mutation in a patient with 17 alpha-hydroxylase/17, 20-lyase deficiency and her family members.
Genomic DNA was extracted from the blood of the patient, her parents and twin sister. The 8 exons of CYP17A1 gene were amplified with polymerase chain reaction (PCR) and screened for mutations by sequencing.
The analysis revealed that the patient was a compound heterozygote carrying two different inherited point mutations on CYP17A1 gene. They were nt186delC on exon 1 and nt1085G > A on exon 6. This type of mutation could induce 17OHD because of complete loss of 17 alpha-hydroxylase activities. And her parents and the twin sister were carriers on CYP17A1 gene. In addition, the mutation nt186delC was a novel point mutation and it was not discovered in normal children.
A new compound heterozygote carrying two different inherited point mutations on CYP17A1 gene was found, and her parents and twin sister were carriers. This is probably the first report in the world of a twin sisters of whom one is a patient with 17OHD and the other is a carrier of CYP17A1 gene mutation.
检测一名17α-羟化酶/17,20-裂解酶缺乏症患者及其家庭成员的CYP17A1基因突变情况。
从患者、其父母及双胞胎姐姐的血液中提取基因组DNA。采用聚合酶链反应（PCR）扩增CYP17A1基因的8个外显子，并通过测序筛选突变。
分析显示，该患者为复合杂合子，在CYP17A1基因上携带两个不同的遗传性点突变。它们分别是外显子1上的nt186delC和外显子6上的nt1085G>A。由于17α-羟化酶活性完全丧失，这种类型的突变可导致17OHD。她的父母和双胞胎姐姐是CYP17A1基因的携带者。此外，突变nt186delC是一个新的点突变，在正常儿童中未被发现。
发现了一名在CYP17A1基因上携带两个不同遗传性点突变的新复合杂合子，其父母和双胞胎姐姐为携带者。这可能是世界上首例双胞胎姐妹，其中一人为17OHD患者，另一人为CYP17A1基因突变携带者的报道。
