Owerbach D, Sherman L, Ballard A L, Azziz R
Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030.
Mol Endocrinol. 1992 Aug;6(8):1211-5. doi: 10.1210/mend.6.8.1406699.
Steroid 21-hydroxylase deficiency is the leading cause of impaired cortisol synthesis in congenital adrenal hyperplasia (CAH), with the nonclassic form (NC) comprising approximately 1% of the Caucasian population. The structure of the CYP21 gene was studied in 13 unrelated NC-CAH patients, three affected siblings, and 55 blood donors using polymerase chain reaction. In addition to the Leu-281 and Leu-30 mutations previously associated with NC-CAH, the finding of a Pro-453 to Ser mutation in exon-10 of CYP21 in the NC-CAH patients is reported. Ser-453 was found in 46.2% of unrelated NC-CAH patients, but only 7.7% and 3.6% of salt-wasting CAH patients and blood donors, respectively. In contrast to the Leu-281 and Leu-30 mutations, Ser-453 has not been previously detected in the CYP21 pseudogene (CYP21P) and, therefore, has not likely arisen by gene conversion.
类固醇21-羟化酶缺乏症是先天性肾上腺皮质增生症（CAH）中皮质醇合成受损的主要原因，非经典型（NC）约占白种人人口的1%。利用聚合酶链反应对13名无亲缘关系的NC-CAH患者、3名患病同胞和55名献血者的CYP21基因结构进行了研究。除了先前与NC-CAH相关的Leu-281和Leu-30突变外，还报告了在NC-CAH患者的CYP21第10外显子中发现Pro-453突变为Ser。在46.2%的无亲缘关系的NC-CAH患者中发现了Ser-453，但在失盐型CAH患者和献血者中分别仅为7.7%和3.6%。与Leu-281和Leu-30突变不同，Ser-453先前未在CYP21假基因（CYP21P）中检测到，因此不太可能由基因转换产生。
