Osinovskaia N S, Ivashchenko T E, Soboleva E L, Baranov V S, Potin V V, Plotnikova E V
Ott Institute of Obstetrics and Gynecology, Russian Academy of Medical Sciences, St. Petersburg, Russia.
Genetika. 2000 Aug;36(8):1147-9.
The spectrum of mutations in the steroid 21-hydroxylase gene (CYP21B) and the frequency of 11 mutations among 66 patients with different forms of congenital adrenal hyperplasia (CAH) were analyzed by means of PCR amplification. Each of the CAH forms was characterized by specific spectrum of diagnostically important mutations. The salt-losing (SL) form of the disease was most frequently associated with gene deletion (39%) and the 668-13C-G mutation in the second intron (23.5%), whereas the majority of simple virilizing (SV) CAH cases were associated with the 1172N mutation in exon 4 (22%), gene deletion (16.5%), and the 668-13C-G mutation (16.5%). Mutations in the steroid 21-hydroxylase gene were detected in 70% of the chromosomes from the patients with the SL and SV forms of CAH, and only in 1.3% of the chromosomes from the patients with the nonclassic (NC) form. A total of 78 mutant chromosomes from the NC CAH patients were examined, and only one case of a gene deletion in the heterozygous state was revealed. In the individuals examined, the V281L and P30L mutations described in the NC CAH patients from other populations were not detected. This result can be explained either by the fact that NC CAH cases in Russia are associated with other major mutations, or by difficult clinical diagnosis questionable CAH cases.
通过聚合酶链反应（PCR）扩增分析了类固醇21 - 羟化酶基因（CYP21B）的突变谱以及66例不同类型先天性肾上腺皮质增生症（CAH）患者中11种突变的频率。每种CAH类型都有其特定的具有诊断意义的突变谱。失盐型（SL）疾病最常与基因缺失（39%）和第二内含子中的668 - 13C→G突变（23.5%）相关，而大多数单纯男性化型（SV）CAH病例与外显子4中的1172N突变（22%）、基因缺失（16.5%）和668 - 13C→G突变（16.5%）相关。在SL型和SV型CAH患者的70%的染色体中检测到类固醇21 - 羟化酶基因突变，而在非经典型（NC）患者的染色体中仅在1.3%检测到。共检查了78条来自NC型CAH患者的突变染色体，仅发现1例杂合状态的基因缺失。在所检查的个体中，未检测到在其他人群的NC型CAH患者中描述的V281L和P30L突变。这一结果要么可以解释为俄罗斯的NC型CAH病例与其他主要突变相关，要么可以解释为临床诊断困难，可疑CAH病例存在问题。
