Mathur R, Menon P S, Kabra M, Goyal R K, Verma I C
Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi.
J Pediatr Endocrinol Metab. 2001 Jan;14(1):27-35. doi: 10.1515/jpem.2001.14.1.27.
Congenital adrenal hyperplasia (CAH) is the commonest cause of female pseudohermaphroditism. It is most often due to steroid 21-hydroxylase deficiency resulting from mutations in the CYP21 gene. This study was conducted to characterize mutations in the CYP21 gene, determine their frequency and correlate genotype with phenotype in Indian children with CAH. Twenty-eight patients with salt-wasting (SW) or simple-virilizing (SV) forms of the disease as well as parents and siblings were studied. Allele specific PCR was carried out and rapid characterization of six mutations was achieved in 23 patients. Twelve patients were homozygous for the mutations and 11 were heterozygous, of whom eight were compound heterozygotes and three were hemizygotes; no mutation was found in five patients. The homozygosity of the mutations was found to be high in our population. The most common mutation was Ile173Asn (31.8%), followed by intron2 splice (27.2%), Gln319stop (22.7%), gene deletion (15.9%) and Pro31Leu (2.2%). Genotype-phenotype correlations showed that the most frequent mutations in the SW group were intron2 splice and Gln319stop mutations (33.3% each) and Ile173Asn (71.4%) in the SV group.
先天性肾上腺皮质增生症（CAH）是女性假两性畸形最常见的病因。其最常见的原因是CYP21基因突变导致类固醇21-羟化酶缺乏。本研究旨在对印度CAH患儿的CYP21基因突变进行特征分析，确定其频率，并将基因型与表型相关联。对28例患有失盐型（SW）或单纯男性化型（SV）疾病的患者以及其父母和兄弟姐妹进行了研究。进行了等位基因特异性PCR，在23例患者中实现了6种突变的快速鉴定。12例患者为突变纯合子，11例为杂合子，其中8例为复合杂合子，3例为半合子；5例患者未发现突变。在我们的研究人群中，突变的纯合性较高。最常见的突变是Ile173Asn（31.8%），其次是内含子2剪接突变（27.2%）、Gln319stop突变（22.7%）、基因缺失（15.9%）和Pro31Leu突变（2.2%）。基因型-表型相关性分析表明，SW组最常见的突变是内含子2剪接突变和Gln319stop突变（各占33.3%），SV组是Ile173Asn突变（71.4%）。
