<![CDATA[Background: Maturity onset diabetes of the young (MODY) is a rare monogenic type of diabetes, but it accounts for 1–5% of diabetes cases and typically presents before the age of 25. Among the 14 subtypes, MODY type 3 (MODY3) is the most common, particularly in Asian populations, and is associated with mutations in the hepatocyte nuclear factor 1 alpha (HNF1A) gene. Diagnosing MODY often presents challenges due to its varied clinical symptoms. Molecular testing based on qPCR offers a more accurate, relatively time-efficient, and cost-effective method for detecting HNF1A gene mutations. Objective: This study aimed to validate the sensitivity and specificity of the primer for exon 4 of HNF1A in patients suspected of having MODY3 using qPCR with SYBR Green. Methods: The samples included patients under 25 years old with a family history of diabetes mellitus, without obesity or ketoacidosis. Sensitivity was analyzed using probit regression based on amplification results from 10 DNA template dilutions with six replications. Analytical specificity was tested using a paired t-test against Plasmodium vivax spike DNA with three replications. Results: The analytical sensitivity of the HNF1A exon 4 primer was 3.16 × 10⁻⁷ ng/µL. The specificity test showed a p-value < 0.05, indicating no significant difference between target DNA and spike DNA variations. Conclusion: The HNF1A exon 4 primer demonstrated high sensitivity and good specificity, supporting its potential for qPCR-based detection of MODY as a preliminary validation.]]>
Copyrights © 2026
