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Adv Biomed Res. 2019 Sep 23;8:55. doi: 10.4103/abr.abr_54_19. eCollection 2019.

Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran.

Advanced biomedical research

Aliasgar Mohammadi, Ameneh Eskandari, Akram Sarmadi, Mehrali Rahimi, Bijan Iraj, Mahin Hashemipour, Morteza Hashmezadeh Chaleshtori, Mohammad Amin Tabatabaiefar

Affiliations

  1. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
  2. Cellular And Molecular Research Center, Institute of Basic Health Sciences, Shahrekord University of Medical Sciences, Shahrekord, Iran.
  3. Department of Endocrinology, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran.
  4. Isfahan Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
  5. Department of Endocrinology, Isfahan University of Medical Sciences, Isfahan, Iran.
  6. Department of Pediatrics, Faculty of Medicine, Imam Hossein Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
  7. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.

PMID: 31673528 PMCID: PMC6777141 DOI: 10.4103/abr.abr_54_19

Abstract

BACKGROUND: Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogeneous group of diabetes characterized by noninsulin-dependent, autosomal-dominant disorder with strong familial history, early age of onset, and pancreatic beta-cell dysfunction. Mutations in at least 14 different genes are responsible for various MODY subtypes. Heterozygous mutations in the hepatocyte nuclear factor 1 alpha (

MATERIALS AND METHODS: Polymerase chain reaction and Sanger sequencing were performed. All the ten exons of the

RESULTS: MODY3 was confirmed in two large families by detecting a mutation (p.G253E) in coding regions of

CONCLUSION: It seems that

Copyright: © 2019 Advanced Biomedical Research.

Keywords: Gene; Iran; hepatocyte nuclear factor 1 alpha; maturity-onset diabetes of the young 3; mutation

Conflict of interest statement

There are no conflicts of interest.

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