Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers

摘要: Deficiency of glycogen debranching enzyme gene (AGL) causes storage disease type III (GSD-III), an autosomal recessive disease. Prenatal diagnosis and carrier detection using enzymatic methods are technically difficult have limited ability to distinguish a from affected patient. Mutations in the AGL can be used for these purposes. However, mutations identified thus far account less than half total mutant alleles, no common been detected except North African Jews rare subtype (GSD-IIIb). Our recent identification three highly informative DNA polymorphic markers allowed us perform prenatal two GSD-III families with unknown mutations, polymerase chain reaction (PCR) restriction analysis. In one family, fetus was diagnosed his status confirmed postnatally. A newborn second family postnatally