Analysis of cDNA from patient 3:10, his parents, and his siblings.

A PCR product containing the region around 473C of the GLCLC gene was generated from cDNA and was analyzed by Dye Primer Cycle sequencing. The results show (arrows) that the parents 2:5 and 2:6 are both heterozygous for the 473C→T substitution in the GLCLC gene, patient 3:10 is homozygous for this mutation, his sister 3:11 is normal, and his brother 3:12 is heterozygous.