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化合物异性CYP11B1基因突变的鉴定和功能性表征

He Liu^1,2, Fuqiang Liu^2,3,4,5, Zichun Wei²

¹School of Clinical and Basic Medical Sciences, Shandong First Medical University & Shandong Academy of Medical Sciences, 6699 Qingdao Road, Jinan, Shandong, 250117, China.

|January 29, 2024

概括

这项研究确定了CYP11B1基因的新型大删除和拼接位突变,导致11β-基酶缺乏 (11β-OHD). 这些遗传变化破坏了酶活性,导致先天性上腺增生 (CAH).

科学领域:

遗传学是一个遗传学.
内分泌学在内分泌学.
分子生物学分子生物学

背景情况:

11β-基酶缺乏 (11β-OHD) 是先天性上腺增生症 (CAH) 的主要原因.
在CYP11B1基因的突变是11β-OHD的原因.
之前对一名中国患者的分析显示,CYP11B1.1.的拼接部位突变 (c.595+1G>A).

研究的目的:

为了研究11β-OHD的遗传基础,在一个家族中,先前确定了拼接位突变.
分析c.595+1G>A突变对CYP11B1基因表达和酶活性的功能影响.

主要方法:

DNA提取和定量实时PCR (qPCR) 用于基因复制数分析.
整体外体序列 (WES) 接着是用于突变识别的桑格序列.
在体外小型基因测定以评估mRNA前剪接变化.

主要成果:

在病人和他的父亲身上,在CYP11B1中发现了一种新的2840-bp删除 (c.395+661_c.1121+180del).
患者呈现复合异构基因突变:新鲜的删除和之前识别的c.595+1G>A拼接位突变.
迷你基因试验证实c.595+1G>A导致3号外显子删除,改变读取框架并导致过早停止编码.

结论:

在11β-OHD患者中发现了CYP11B1的新型大删除和拼接位突变.
两种已识别的突变都通过改变读取框架来破坏CYP11B1酶活性.
这些发现扩大了已知的CYP11B1突变谱,并有助于准确的11β-OHD分子诊断.

关键词:

缺乏11β-基酶的情况.复合异构基突变是复合的异构基突变.遗传性上腺过度增生大量的删除删除突变突变是一种突变.

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