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Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY)

✍ Scribed by Barbara Guazzini; Davide Gaffi; Davide Mainieri; Giuseppe Multari; Renzo Cordera; Stefano Bertolini; Guido Pozza; Franco Meschi; Fabrizio Barbetti

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 30 KB
Volume: 12
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1998)12:2<136::aid-humu13>3.0.co;2-v

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✦ Synopsis

The maturity-onset diabetes of the young (MODY), an autosomal dominant form of non-insulin dependent diabetes mellitus (NIDDM), is caused by mutations in the glucokinase (GK, MODY 2) and in the hepatocyte nuclear factor 1 (MODY 3) and 4 (MODY1) genes. We have screened the glucokinase gene by the polymerase chain reaction (PCR) and denaturing gradient gel electrophoresis (DGGE) in fifteen subjects with clinical characteristics of MODY and one parent with NIDDM, impaired glucose tolerance or gestational diabetes. PCR products with abnormal mobility in DGGE were directly sequenced. We have identified four mutant alleles, three of them (G80S, E221K, G227C) are new missense mutations located in or near the region of the active site cleft of the enzyme. The mutations co-segregate with hyperglycemia in the families of the three probands, whose biochemical and clinical phenotype is similar to other individuals with MODY 2 mutations.

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