Archives of Iranian Medicine 2007-Oct
D28G mutation in congenital glucose-galactose malabsorption.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Lidhja ruhet në kujtesën e fragmenteve
Fjalë kyçe
Abstrakt
BACKGROUND
Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder of the intestinal transport of glucose and galactose, leading to watery diarrhea, dehydration, failure to thrive, and early death.
METHODS
In this study, we analyzed D28G mutation in 16 family members of a patient with typical presentation of congenital glucose-galactose malabsorption with polymerase chain reaction-Restriction Fragment Length Polymorphism method.
RESULTS
Nine members of this family were heterozygous for D28G mutation.
CONCLUSIONS
To the best of our knowledge this is the first report of D28G mutation in Iran. Moreover, this simple typical PCR-Restriction Fragment Length Polymorphism method, allows immediate identification of D28G mutation.
