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首页> 外文期刊>Human mutation >Characterization of the CYP21 gene 5' flanking region in patients affected by 21-OH deficiency.
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Characterization of the CYP21 gene 5' flanking region in patients affected by 21-OH deficiency.

机译：CYP21基因5'侧翼区在21-OH缺乏症患者中的特征。

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摘要

In order to test the hypothesis that mutations in the 5' non-coding region of CYP21 gene could contribute to the various spectrum of disease presentation due to 21-OH deficiency, the 400bp nucleotide sequence upstream of the ATG codon of CYP21 gene has been characterized in 28 CAH patients who have previously been genotyped by screening for the ten most frequent CYP21 mutations. Six specific sequence variations (-4C-->T, -73C-->T, -295T-->C, -294A-->C, -283A-->G, -281T-->G) have been identified in this region of CYP21 gene in 3 out of 28 21-OH deficient patients for whom the coding region mutations have been previously identified. Three of these mutations, -295T-->C, -294A-->C, -283A-->G, are apparently generated by a gene-conversion event, thus giving first evidence that this mechanism also applies to the 5' untranslated region of CYP21 gene in 21-OH deficiency. Four other sequence changes, identified at nucleotide position -279, -331, -350 and -353, could be referred to as normal since they are present also in healthy subjects. It may not be excluded that some of the newly-identified single nucleotide changes in the regulatory region could have a modulatory effect on the CYP21 gene transcriptional activity thus affecting the clinical outcome. Copyright 2000 Wiley-Liss, Inc.
机译：为了检验CYP21基因5'非编码区突变可能由于21-OH缺乏而导致各种疾病表现的假说，已对CYP21基因ATG密码子上游400bp核苷酸序列进行了表征。在28位先前通过筛选十种最常见的CYP21突变进行基因分型的CAH患者中。已鉴定出六个特定的序列变异（-4C-> T，-73C-> T，-295T-> C，-294A-> C，-283A-> G，-281T-> G）在先前已确定其编码区突变的28位21-OH缺乏患者中，有3位在CYP21基因的这一区域中表达了这种现象。这些突变中的三个-295T-> C，-294A-> C，-283A-> G显然是由基因转化事件产生的，因此首次证明该机制也适用于未翻译的5' CYP21基因的21-OH缺乏区在核苷酸-279，-331，-350和-353处鉴定出的其他四个序列变化可被称为正常，因为它们也存在于健康受试者中。不能排除调节区域中一些新近鉴定的单核苷酸变化可能对CYP21基因转录活性产生调节作用，从而影响临床结果。版权所有2000 Wiley-Liss，Inc.

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