Clive R. Pullinger, Celeste Eng, Gerald Salen, Sarah Shefer, Ashok K. Batta, Sandra K. Erickson, Andrea Verhagen, Christopher R. Rivera, Sean J. Mulvihill, Mary J. Malloy, John P. Kane
CYP7A1 mutation detection. (a) TaqI digested full-length CYP7A1 cDNA produced by RT-PCR from control and patient (IV-17) RNA showing homozygosity for the additional TaqI site. (b) Screening of the immediate family of the proband. Homozygotes are represented by filled squares and circles and heterozygotes by half-filled squares and circles. The coding region of exon 6 was amplified by PCR and digested with TaqI. (The double horizontal lines indicate a consanguineous mating.) (c) Pedigree of family with CYP7A1 deficiency. Individuals II-1, II-4, III-3, III-5, III-6, and IV-11 are depicted as obligate carriers. *It cannot be inferred which one of these two subjects was the initial carrier.