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首页> 外文期刊>BMC Medical Genetics >A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
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A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form

机译：在一名患有经典先天性肾上腺增生形式的意大利女性中鉴定出一个新的CYP21A1P / CYP21A2嵌合基因

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Background More than 90% of Congenital Adrenal Hyperplasia (CAH) cases are associated with mutations in the 21-hydroxylase gene (CYP21A2) in the HLA class III area on the short arm of chromosome 6p21.3. In this region, a 30 kb deletion produces a non functional chimeric gene with its 5' and 3' ends corresponding to CYP21A1P pseudogene and CYP21A2 , respectively. To date, five different CYP21A1P/CYP21A2 chimeric genes have been found and characterized in recent studies. In this paper, we describe a new CYP21A1P/CYP21A2 chimera ( CH-6 ) found in an Italian CAH patient. Methods Southern blot analysis and CYP21A2 sequencing were performed on the patient. In addition, in order to isolate the new CH-6 chimeric gene, two different strategies were used. Results The CYP21A2 sequencing analysis showed that the patient was homozygote for the g.655C/A>G mutation and heterozygote for the p.P30L missense mutation. In addition, the promoter sequence revealed the presence, in heterozygosis, of 13 SNPs generally produced by microconversion events between gene and pseudogene. Southern blot analysis showed that the woman was heterozygote for the classic 30-kb deletion producing a new CYP21A1P/CYP21A2 chimeric gene ( CH-6 ). The hybrid junction site was located between the end of intron 2 pseudogene, after the g.656C/A>G mutation, and the beginning of exon 3, before the 8 bp deletion. Consequently, CH-6 carries three mutations: the weak pseudogene promoter region, the p.P30L and the g.655C/A>G splice mutation. Conclusion We describe a new CYP21A1P/CYP21A2 chimera ( CH-6 ), associated with the HLA-B15, DR13 haplotype, in a young Italian CAH patient.
机译：背景超过90％的先天性肾上腺皮质增生（CAH）病例与6p21.3号染色体短臂HLA III类区域的21-羟化酶基因（CYP21A2）突变有关。在该区域，缺失30 kb会产生一个非功能性嵌合基因，其5'和3'端分别对应于CYP21A1P假基因和CYP21A2。迄今为止，在最近的研究中发现并表征了五个不同的CYP21A1P / CYP21A2嵌合基因。在本文中，我们描述了在意大利CAH患者中发现的一种新的CYP21A1P / CYP21A2嵌合体（CH-6）。方法对该患者进行Southern blot分析和CYP21A2测序。另外，为了分离新的CH-6嵌合基因，使用了两种不同的策略。结果CYP21A2测序结果显示该患者的g.655C / A> G突变为纯合子，而p.P30L错义突变为杂合子。另外，启动子序列揭示在杂合中存在13个SNP，它们通常是由基因和假基因之间的微转化事件产生的。 Southern印迹分析表明，该妇女是经典的30kb缺失的杂合子，产生了新的CYP21A1P / CYP21A2嵌合基因（CH-6）。杂合连接位点位于g.656C / A> G突变后内含子2假基因的末端与外显子3的开始之间（缺失8 bp）。因此，CH-6携带三个突变：弱假基因启动子区域，p.P30L和g.655C / A> G剪接突变。结论我们描述了一种新的CYP21A1P / CYP21A2嵌合体（CH-6），与一名年轻的意大利CAH患者的HLA-B15，DR13单倍型相关。

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