Fluorescence melting curve analysis for genotyping of c.1396G > A (rs473267) of phosphoglucomutase-3 gene

IF 1.3 4区医学 Q3 MEDICINE, LEGAL

Legal Medicine Pub Date : 2025-05-21 DOI:10.1016/j.legalmed.2025.102634

Mikiko Soejima , Yoshiro Koda

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引用次数: 0

Abstract

Phosphoglucomutase-3 (PGM3) is an enzyme that plays a pivotal role in glycosylation, the process of adding glycan sugars to other glycans, proteins, or lipids. It plays a crucial role in many physiological functions and pathological conditions. PGM3 has a functional variant, c.1396G > A (rs473267). Our previous research indicated that this polymorphism may be associated with the development of diabetic nephropathy and diabetic neuropathy in a Japanese population. In this study, we developed a fluorescence melting curve analysis (FMCA) using a TaqMan probe to identify the c.1396G > A of PGM3. The validity of this method was ascertained using 67 subjects of Mexican ancestry from the 1000 Genomes Project. The present FMCA method was validated because the results obtained in the FMCA were in perfect agreement with the database sequence results of 67 subjects. The FMCA method is a valuable tool for investigating the association between the c.1396G > A polymorphism in PGM3 and various pathological conditions across diverse populations.

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磷酸葡萄糖糖化酶-3基因c.1396G > A （rs473267）的荧光熔化曲线分析

磷酸葡萄糖糖化酶-3 （PGM3）是一种在糖基化过程中起关键作用的酶，糖基化是将糖聚糖添加到其他聚糖、蛋白质或脂质的过程。它在许多生理功能和病理条件中起着至关重要的作用。PGM3有一个功能变体，c.1396G >；(rs473267)。我们之前的研究表明，这种多态性可能与日本人群中糖尿病肾病和糖尿病神经病变的发展有关。本研究利用TaqMan探针建立了一种荧光熔化曲线分析（FMCA）方法来鉴定c.1396G >；PGM3的A。使用来自千人基因组计划的67名墨西哥血统受试者确定了该方法的有效性。本方法得到的结果与67名受试者的数据库序列结果完全吻合，验证了本方法的有效性。FMCA方法是研究c.1396G >；PGM3多态性和不同人群的各种病理状况。

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来源期刊

Legal Medicine Nursing-Issues, Ethics and Legal Aspects

CiteScore

2.80

自引率

6.70%

发文量

119

审稿时长

7.9 weeks

期刊介绍： Legal Medicine provides an international forum for the publication of original articles, reviews and correspondence on subjects that cover practical and theoretical areas of interest relating to the wide range of legal medicine. Subjects covered include forensic pathology, toxicology, odontology, anthropology, criminalistics, immunochemistry, hemogenetics and forensic aspects of biological science with emphasis on DNA analysis and molecular biology. Submissions dealing with medicolegal problems such as malpractice, insurance, child abuse or ethics in medical practice are also acceptable.