Identification of W501S mutation.

(A) Primers used for sequencing of the γ-glutamyl carboxylase gene. Only primers that are different from those reported by Brenner et al12 are indicated. (B) Sequence analysis of genomic DNA from a normal control subject (W), a heterozygous patient (He), and the homozygous patient (Ho). (C) RFLP analysis of the W501S mutation, which results in loss of a BstNI site in the amplified exon 11 DNA. Lane 1, patient's DNA homozygous for the mutation; lane 2, heterozygous pattern; lane 3, normal, control. (D) Pedigree of the Lebanese family showing the segregation of the W501S mutation in the γ-glutamyl carboxylase gene.