Display options
Cite
Yang J, Jiang F, Guo H, et al. Studies of genetic variability of the hepatocyte nuclear factor-1α gene in an Indian maturity-onset diabetes of the young family. Cell Biosci. 2016;6:29doi: 10.1186/s13578-016-0095-5.
Yang, J., Jiang, F., Guo, H., Soniya, T., Yan, C. X., Tian, Z. F., & Shi, B. Y. (2016). Studies of genetic variability of the hepatocyte nuclear factor-1α gene in an Indian maturity-onset diabetes of the young family. Cell & bioscience, 629. https://doi.org/10.1186/s13578-016-0095-5
Yang, Jing, et al. "Studies of genetic variability of the hepatocyte nuclear factor-1α gene in an Indian maturity-onset diabetes of the young family." Cell & bioscience vol. 6 (2016): 29. doi: https://doi.org/10.1186/s13578-016-0095-5
Yang J, Jiang F, Guo H, Soniya T, Yan CX, Tian ZF, Shi BY. Studies of genetic variability of the hepatocyte nuclear factor-1α gene in an Indian maturity-onset diabetes of the young family. Cell Biosci. 2016 May 04;6:29. doi: 10.1186/s13578-016-0095-5. eCollection 2016. PMID: 27148439; PMCID: PMC4855895.
Copy Download .nbib Format: NLM
Share it on

Cell Biosci. 2016 May 04;6:29. doi: 10.1186/s13578-016-0095-5. eCollection 2016.

Studies of genetic variability of the hepatocyte nuclear factor-1α gene in an Indian maturity-onset diabetes of the young family.

Cell & bioscience

Jing Yang, Feng Jiang, Hui Guo, Thadimacca Soniya, Chun-Xia Yan, Zhu-Fang Tian, Bing-Yin Shi

Affiliations

  1. Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University School of Medicine, Xi'an, 710061 People's Republic of China.
  2. Department of Forensic Medicine, Xi'an Jiaotong University School of Medicine, Xi'an, 710061 People's Republic of China.

PMID: 27148439 PMCID: PMC4855895 DOI: 10.1186/s13578-016-0095-5

Abstract

Maturity-onset diabetes of the young (MODY), one of the specific types of diabetes mellitus, is a monogenetic disorder characterized by an autosomal dominant (AD) inheritance and β-cell dysfunction. To study an Indian family with clinical diagnosis of MODY and detect the genetic mutations in the aspect of molecular mechanism, seven blood samples were obtained from the diabetic patients of this pedigree and genomic DNA was extracted from peripheral leukocytes. The exon1, exon2 and exon4 of hepatocyte nuclear factor-1α (HNF-1α) gene were amplified by polymerase chain reaction. Then the products were sequenced and compared with standard sequences on gene bank. As a result, two mutations were detected in exon1. That was CTC → CTG (Leu → Leu) in codon17 and ATC → CTC (Ile → Leu) in codon27. I27L was speculated to have a close relationship with the glycometabolism and the pathogenesis of diabetes mellitus together with the putative novel mutation existed in this Indian pedigree. Meanwhile, one mutation of GGG → GGC (Gly → Gly) in codon288 of exon4 was detected in the proband. No mutations were found in exon2 but a G → T base substitution in the intron4 region among all seven samples was detected. It may have some potential effects on the onset of diabetes in this family, but we do not have any evidence right now. Although it requires further investigation on the function of mutations found in the intron region, our research may provide some clue for this issue and it deserves more attention.

Keywords: Gene mutation; Hepatocyte nuclear factor-1α (HNF-1α); Maturity-onset diabetes of the young (MODY); Single nucleotide polymorphism (SNP)

References

  1. Diabetes. 1997 Mar;46(3):528-35 - PubMed
  2. N Engl J Med. 2001 Sep 27;345(13):971-80 - PubMed
  3. Diabetes Care. 1990 Jan;13(1):49-64 - PubMed
  4. Nature. 1992 Mar 12;356(6365):162-4 - PubMed
  5. Nat Genet. 1999 Nov;23(3):323-8 - PubMed
  6. Diabetes. 1990 Jun;39(6):647-52 - PubMed
  7. Hum Mutat. 2006 Sep;27(9):854-69 - PubMed
  8. Nature. 1996 Dec 5;384(6608):455-8 - PubMed
  9. Nat Genet. 1997 Oct;17(2):138-9 - PubMed
  10. Diabetes. 2008 Jun;57(6):1738-44 - PubMed
  11. Horm Res. 2002;57 Suppl 1:29-33 - PubMed
  12. J Biol Chem. 1999 Jan 1;274(1):305-15 - PubMed
  13. Nature. 1996 Dec 5;384(6608):458-60 - PubMed
  14. Nat Genet. 1997 Dec;17(4):384-5 - PubMed
  15. Curr Opin Genet Dev. 1994 Dec;4(6):823-31 - PubMed

Publication Types