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Updated: Sep 14, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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一种复发的ABCC2 c.2439 + 5G > 一种变体扰乱了mRNA拼接,导致杜宾-约翰逊综合征

Rongyue Sun1,2, Ting Zhu2, Tingmin Zhou2,3

  • 1Department of Pulmonary and Critical Care Medicine, People's Hospital of Jingning She Autonomous County, Lishui, 323000, Zhejiang, P. R. China.

BMC medical genomics
|July 18, 2025
PubMed
概括

这项研究确定了ABCC2基因中的一种新型拼接变异,c.2439+5G>A,是杜宾-约翰逊综合征 (DJS) 的原因. 这种变异导致MRP2蛋白表达减少和局部错误,突显了对DJS进行全面基因测试的必要性.

关键词:
ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2ABCC2A杜宾 - 约翰逊综合征 杜宾 - 约翰逊综合征异卵性内基变体异卵性内基变体迷你基因检测测试

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