D28G mutation in congenital glucose-galactose malabsorption.
Arch Iran Med
; 10(4): 514-8, 2007 Oct.
Article
em En
| MEDLINE
| ID: mdl-17903058
ABSTRACT
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.CONCLUSION:
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.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Ácido Aspártico
/
Transportador 1 de Glucose-Sódio
/
Galactose
/
Glucose
/
Glicina
/
Síndromes de Malabsorção
/
Mutação
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Irã