成熟期发病的青年糖尿病的血统分析：ABCC8 基因突变？

IF 0.7 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Clinical laboratory Pub Date : 2024-11-01 DOI:10.7754/Clin.Lab.2024.240537

Xiaofang Fan, Lingxiao Wang, Pingping Hong

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引用次数: 0

摘要

背景：青年期成熟型糖尿病（MODY）是一种常染色体显性遗传病：青年成熟期糖尿病（MODY）是一种常染色体显性遗传病，由 11 号染色体 ABCC8 基因突变引起：方法：采用全基因组外显子高通量测序法对一例因 ABCC8 基因突变而疑似患有 MODY 的病例进行了检测。通过桑格测序验证了所选的变异位点：结果：在疑似患者及其父亲的 ABCC8 基因（Chr11-174494701）第 15 号外显子中发现了一个 c.2060C>T (p.T687M) 杂合突变。根据临床表现，该基因突变最初与 MODY 有关：结论：对于高度怀疑患有 MODY 的患者，应进行基因检测，以提高他们的生活质量。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Pedigree Analysis of Maturity-Onset Diabetes of the Young: ABCC8 Mutations?

Background: Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant disease, caused by muta-tions in the ABCC8 gene, chromosome 11.

Methods: A case suspected of MODY due to an ABCC8 mutation was examined using whole-genome exon high-throughput sequencing. Selected variant sites were validated via Sanger sequencing.

Results: A heterozygous mutation c.2060C>T (p.T687M) in exon 15 of the ABCC8 gene (Chr11-174494701) was identified in both the proband and the father. This mutation was initially linked to MODY based on clinical fea¬tures.

Conclusions: For patients with high suspicion of MODY, genetic test should conducted to improve their quality of life.

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来源期刊

Clinical laboratory 医学-医学实验技术

CiteScore

1.50

自引率

0.00%

发文量

494

审稿时长

3 months

期刊介绍： Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.