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HERDIN Record #: PCHRD051708020543 Submitted: 17 May 2008

A study of mutations in genes associated with type 2 diabetes in Filipino patients .

Ronald R. Matias,
Rhodora R. Santos,
Ricardo M. Fernando,
Ma. Luisa G. Daroy,
Philippe Noriel Q. Pascua

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Type 2 diabetes, a chronic condition of hyperglycemia, is caused by varying degrees of insulin resistance and/or dysfunction of insulin-producing beta cells of the pancreas. The disease phenotypes result from the interaction of multiple gene variants, diet and the environment. This study is an initial attempt to characterize possible genetic determinants of Type 2 diabetes in Filipino diabetics by Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP). The presence of sequence variation in the Stul restriction site in Exon 17 of the insulin receptor gene was studied in 9 diabetic individuals. Both diabetic and normal non-diabetic individuals carried the intact restriction site in the 317bp fragment amplified from Exon 17. The distribution of 3 allelic variants of Exon 7 of the endothelial nitric oxide synthase (eNOS) gene in another set of diabetic subjects and non-diabetic controls was also determined. The single nucleotide G to T variation a position 894 in a 248bp fragment located in Exon 7 of the eNOS gene translates into a change in amino acid at position 298 from glutamic acid to aspartic acid which can be detected by RFLP. A total of 133 diabetic subjects and 79 normal individuals were tested. The results show that a G to T substitution was more likely to occur in diabetic subjects (42 percent) compared to the normal group (27.8 percent), however this difference is not statistically significant (p=0.114). (Author)

Publication Type
Publication Sub Type
Journal Article, Original
St. Luke's Medical Journal
Publication Date
January-June 2005
LocationLocation CodeAvailable FormatAvailability
Philippine Council for Health Research and Development Library Abstract Print Format

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