Figure 1.
Detection by PCR-SSCP (a) and identification by direct sequencing (b) of the 3534G > A mutation in the CYP1A2 gene. A PCR fragment encompassing exon 6 of CYP1A2 and its proximal flanking sequences has been analysed by SSCP and direct sequencing as described in the Methods section. A DNA sample from the patient with a slow CYP1A2 activity (Wt/Mut) is compared with that from a subject with a homozygous wild-type genotype (Wt/Wt). The arrow indicates the position of the heterozygous G/A mutation in the donor splice site of intron 6. R; guanine or adenine.