Genetic linkage analysis of GCK and HNF1A genes in a group of families with MODY in Isfahan province of Iran

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Sarmadi Akram; TABATABAIEFAR MOHAMMAD AMIN; TABATABAEI FATEMEH; HASHEMZADEH CHALESHTORI MORTEZA

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Journal: Razi Journal of Medical Sciences Year:2020 | Volume:27 | Issue:1 Page(s): 112-121

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Title

Genetic linkage analysis of GCK and HNF1A genes in a group of families with MODY in Isfahan province of Iran

Author(s)

Sarmadi Akram | TABATABAIEFAR MOHAMMAD AMIN | TABATABAEI FATEMEH | HASHEMZADEH CHALESHTORI MORTEZA | Issue Writer Certificate

Keywords

Maturity Onset Diabetes of the Youngs (MODY)Q1

Genetic linkageQ1

STR markerQ1

GCK geneQ1

HNF1A geneQ1

Abstract

Background: Diabetes mellitus is a group of metabolic disorders resulting in increased level of blood sugar. Type 1 Diabetes (T1D), Type 2 Diabetes (T2D) and monogenic diabetes are there major groups of diabetes. Maturity-onset diabetes of the young (MODY) is a monogenic diabetes that is frequently mistaken for T1D or T2D and has 14 different subgroups. The aim of this study was to diagnose MODY and determine the frequency of its 2 major subgroups in Isfahan diabetic population. Methods: The aim of this descriptive-experimental study was determining the type and frequency of mutations in GCK and HNF1A genes in 26 families with MODY from Isfahan using Genetic linkage analysis method and selection of 4 markers for each gene. Linkage result was confirmed by fragment analysis and all the exons of genes were sequenced in any of the linked families. Results: In this study from 26 families, 4 families were linked to markers of GCK gene and 3 families were linked to HNF1A gene. After sequencing of all exons of these 2 genes in the related families, variants were analyzed and their effects on diabetes were surveyed. There was no pathogenic mutation but some polymorphisms with increasing effects on susceptibility to diabetes were found. Conclusion: In this study despite of the fact that some families were linked to markers of these 2 genes, and the results of other studies that showed mutations in these 2 genes are the frequent reasons of MODY, there were no pathogenic variants in any of the patients. So it seems that the genetic profile of this population is different from other studied populations.

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APA: Copy

Sarmadi, Akram, TABATABAIEFAR, MOHAMMAD AMIN, TABATABAEI, FATEMEH, & HASHEMZADEH CHALESHTORI, MORTEZA. (2020). Genetic linkage analysis of GCK and HNF1A genes in a group of families with MODY in Isfahan province of Iran. RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES), 27(1 ), 112-121. SID. https://sid.ir/paper/371080/en

Vancouver: Copy

Sarmadi Akram, TABATABAIEFAR MOHAMMAD AMIN, TABATABAEI FATEMEH, HASHEMZADEH CHALESHTORI MORTEZA. Genetic linkage analysis of GCK and HNF1A genes in a group of families with MODY in Isfahan province of Iran. RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES)[Internet]. 2020;27(1 ):112-121. Available from: https://sid.ir/paper/371080/en

IEEE: Copy

Akram Sarmadi, MOHAMMAD AMIN TABATABAIEFAR, FATEMEH TABATABAEI, and MORTEZA HASHEMZADEH CHALESHTORI, “Genetic linkage analysis of GCK and HNF1A genes in a group of families with MODY in Isfahan province of Iran,” RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES), vol. 27, no. 1 , pp. 112–121, 2020, [Online]. Available: https://sid.ir/paper/371080/en

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