Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous Albinism

We have analyzed the tyrosinase coding region of three individuals having Type IA OCA within an extended family using genomic DNA amplification and dideoxy sequencing. Two of the affected individuals are dizygotic twins. All three have a common missense mutation at codon 81 (Pro → Leu) within exon I. The twins have a second missense mutation at codon 371(Asn → Thr) within exon III and the third individual has a second missense mutation at codon 47 (Gly → Asp) within exon I. For each of these three individuals, the loss of enzyme function is the result of two different mutations, showing that they are compound heterozygotes of two mutant tyrosinase alleles.