Detection of a novel deletion in the cystathionine β-synthase (CBS) gene using an improved genomic DNA based method1

摘要: We elucidated the intron-exon boundaries of 15 coding exons human cystathionine β-synthase (CBS) gene in order to establish an improved method based on PCR and direct sequencing for detection CBS mutations. Using this we identified pathogenic mutations two Danish siblings with deficiency. Patients were compound heterozygotes: detected 833T→C mutation a novel 22 bp deletion exon 4 (493–514del) that introduces frameshift stop codon immediately after deletion. The resulted no detectable mRNA from allele, as assessed by cDNA. established represents improvement existing cDNA because it permits within entire region peripheral blood sample, including splice resulting lack or reduced amount transcript.