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首页> 外文期刊>Advanced Biomedical Research >Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche
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Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche

机译：CYP21A2基因突变在非经典先天性肾上腺皮质增生患者中的作用

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Background: Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilase is one of common disease with an autosomal recessive form. In this study, our aim is to detect the prevalence of eight common mutations in nonclassical congenital adrenal hyperplasia (NCAH). Materials and Methods: A total of 30 patients with clinical and laboratory evidence of NCAH was selected. Gene-specific polymerase chain reaction (PCR) without contamination of pseudogene was carried out, and PCR product of this step was used to amplification-refractory mutation system PCR on eight common mutations in CYP21A2 gene. Results: Two heterozygote patients for I2G mutation and six heterozygote patients for Q318X mutation is reported in our study. These mutations associated with the classic form of CAH, and heterozygotes presented with NC symptom, including premature pubarche and hirsutism. Conclusion: There are some data about the association of the mutation with the clinical form of CAH including classic (salt-wasting and simple virilizing) and NC form. I2G and Q318X mutations were reported in classic form in homozygote state, but the heterozygote form associated with NC form. CAH diagnosis with NC symptom and with measurement of 17-hydroxyprogestrone as NCAH is not a trusted assessment and require to molecular analysis for accurate diagnosis.
机译：背景：由于21-羟化酶编码基因的突变导致的先天性肾上腺增生（CAH）是常染色体隐性遗传的常见疾病之一。在这项研究中，我们的目的是检测非经典先天性肾上腺皮质增生（NCAH）中八个常见突变的患病率。材料和方法：总共选择30例具有NCAH临床和实验室证据的患者。进行无假基因污染的基因特异性聚合酶链反应（PCR），并将该步骤的PCR产物用于CYP21A2基因的8个常见突变的扩增-难治性突变系统PCR。结果：我们的研究报道了2名I2G突变的杂合子患者和6名Q318X突变的杂合子患者。这些突变与经典形式的CAH相关，并且杂合子表现为NC症状，包括过早的青春期和多毛症。结论：关于突变与CAH临床形式的相关性有一些数据，包括经典（盐消化和简单杀菌）和NC形式。 I2G和Q318X突变以纯合子状态报道为经典形式，但杂合子形式与NC形式相关。伴有NC症状的CAH诊断和以NCAH进行的17-羟基孕酮的测量不是可信赖的评估，需要分子分析以进行准确的诊断。

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