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首页> 外文期刊>Indian Journal of Endocrinology and Metabolism >Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia
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Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia

机译：先天性肾上腺皮质增生患者CYP21A2基因的分子遗传学分析

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Context:Congenital adrenal hyperplasia (CAH) is one of the inborn errors of metabolic disorder inherited in an autosomal recessive manner caused by the defects in the steroid 21 hydroxylase CYP21A2 gene. We analyzed the genotype of 62 patients with classic CAH.Aims:To find out the underlying mutations of CYP21A2 gene.Settings and Design:Cohort of CAH patients.Materials and Methods:Sixty-two patients with CAH were recruited from the endocrine clinic at AIIMS. Electrochemiluminiscence method was used for estimating the levels of cortisol. Radioimmunoassay kit-based method was used for estimating the 17 OHP levels. Polymerase chain reaction amplification was done using specific primers to amply the CYP21A2 gene.Statistical Analysis Used:Statistical analysis was done by using Epi Info Version 3.5.1.2008.Results:Out of 62 patients, 50 were simple virilizers (SV) and 12 were salt wasters (SW). Fifty-six were females and six were males. Five 46, XX children were reared as males. Age at presentation varied from 8 months to 38 years. Molecular genetic analysis revealed that the highest number of patients harboured (In 2) IVS2-13 A/C > G (48%), followed by p.P30L (46%), p.Q318X (35%), (D 8 bp) deletion 8 bp (26%), p.I172N (26%), and p. R356W (20%) mutations.Conclusion:This is among the few studies to analyze the mutational spectrum of CYP21A2 gene in a large CAH cohort from India. Molecular diagnosis of CYP21A2 gene should be considered as part of the CAH evaluation to assess the risk of the patients/parents/siblings and to offer genetic counseling.
机译：背景：先天性肾上腺皮质增生（CAH）是由类固醇21羟化酶CYP21A2基因缺陷引起的常染色体隐性遗传的代谢性疾病的先天性错误之一。我们分析了62例经典CAH患者的基因型。目的：寻找CYP21A2基因的潜在突变。环境与设计：CAH患者队列。材料与方法：从AIIMS内分泌诊所招募了62例CAH患者。 。电化学发光法用于估计皮质醇水平。基于放射免疫测定试剂盒的方法用于估算17种OHP水平。使用特异性引物对CYP21A2基因进行聚合酶链反应扩增。统计分析：使用Epi Info版本3.5.1.2008进行统计分析。结果：62例患者中有50例是简单的杀菌剂（SV），12例是盐浪费者（SW）。女性为56，男性为6。育有5名46，XX名儿童为男性。演讲的年龄从8个月到38岁不等。分子遗传学分析显示，IVS2-13 A / C> G的患者数量最多（2例）（48％），其次是p.P30L（46％），p.Q318X（35％），（D 8 bp） ）删除8 bp（26％），p.I172N（26％）和p。 R356W（20％）突变。结论：这是对来自印度一个大型CAH队列中CYP21A2基因突变谱的少数研究之一。 CYP21A2基因的分子诊断应作为CAH评估的一部分，以评估患者/父母/兄弟姐妹的风险并提供遗传咨询。

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