Figure 2.

Mutations in the XPG gene of patient XPCS2LV. (A and C) Sequence of wild-type (top) and XPCS2LV (bottom) RT-PCR products showing the same A deletion as in XPCS1LV in one allele (A) and the C → T transition at position 984 in the second allele (C). (B) Slot-blot hybridization of PCR products with wild-type (WT) or mutation-specific (ΔA) oligonucleotide probes. The wild-type and mutant sequences are present in both genomic DNA and mRNA from XPCS2LV. Genomic DNA from XPCS1LV and XP125LO (83 DNA) and cDNA clones WT and ΔA are included as controls. (D) FokI restriction analysis of genomic PCR products from XPCS2LV (CS2) and XPCS1LV (CS1). L, HaeIII digest of pBluescript II-SK⁺ DNA, with fragment lengths in bp; F, FokI digests; −, undigested products. The C → T transition destroys a FokI site (GGATG[N]₉/and/[N]₁₃CATCC) in one allele of XPCS2LV.