研究一名蛋白 S 缺乏症患者的新型 PROS1 剪接变体。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-07-26 DOI:10.1038/s41439-024-00286-9

Yo Niida, Wataru Fujita, Sumihito Togi, Hiroki Ura

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引用次数: 0

摘要

在此，我们报告了一名 I 型蛋白 S 缺乏症患者的新型 PROS1 剪接变异。通过基于长程 PCR 的靶向 DNA 和 RNA 测序，在 mRNA 水平上对致病剪接变异进行了定性和定量分析。外显子 4 剪接供体位点的碱基替换激活了内含子 4 中潜在的剪接供体位点，导致 48 个碱基（16 个氨基酸）的框内插入。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency.

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Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency.

Here, we report a novel PROS1 splicing mutation in a patient with type I protein S deficiency. Qualitative and quantitative analysis of pathogenic splicing variants at the mRNA level was performed by long-range PCR-based targeted DNA and RNA sequencing. A base substitution in the exon 4 splicing donor site activates a potential splicing donor site in intron 4, resulting in an in-frame insertion of 48 bases (16 amino acids).

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks