Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

摘要: Abstract Maple syrup urine disease (MSUD) is caused by a deficiency in the mitochondrial branched-chain alpha-keto acid dehydrogenase complex. The incidence of MSUD Philadelphia Mennonites 1/176 births resulting from consanguinity. In this study, we amplified cDNAs for decarboxylase E1 alpha subunit complex classical patient and an obligatory heterozygote Mennonite family PCR. Sequencing disclosed at codon 393 mature polypeptide base substitution changing tyrosine (encoded TAC) to asparagine residue AAC), which designated Y393N. A segment gene containing 5' portion exon 9 was amplified. Probing genomic DNA with allele-specific oligonucleotide probes showed that mutation homozygous six affected present heterozygous carriers. identification will facilitate diagnosis carrier detection population.