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

• Published in: Legal medicine (Tokyo, Japan) Vol. 76; p. 102634
• Main Authors: Soejima, Mikiko, Koda, Yoshiro
• Format: Journal Article
• Language: English
• Published: Ireland Elsevier B.V 01.07.2025
• Subjects: Diabetic Nephropathies - genetics; Fluorescence; Fluorescence melting curve analysis; Genotype; Genotyping Techniques - methods; Humans; Phosphoglucomutase - genetics; Phosphoglucomutase-3; Polymorphism, Single Nucleotide; Rs473267; TaqMan probe; Fluorescence melting curve analysis; TaqMan probe; Rs473267; Phosphoglucomutase-3
• ISSN: 1344-6223; 1873-4162; 1873-4162
• DOI: 10.1016/j.legalmed.2025.102634

•The PGM3 has a functional variant, c.1396G > A (rs473267).•To identify the c.1396G > A of PGM3, a genotyping assay based on FMCA was developed.•This FMCA based method allows us to genotype rs473267 in a relatively large number of samples. 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.