OBJECTIVEMutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).

METHODSTo define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families.

RESULTSThe patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC. However, the fetus did not get any one of the two mutations, and so was with a normal genotype and phenotype. The parents of proband in family 2 were heterozygous with IVS4+ 3A>T or G253E respectively, but their fetus was heterozygous only with IVS4+3A>T but without G253E, and so was a carrier as his father.

CONCLUSIONIn the mainland of China, the prenatal gene diagnosis of OCA1 is reported for the first time.

Albinism, Oculocutaneous ; diagnosis ; genetics ; Child, Preschool ; Family Health ; Female ; Humans ; Male ; Monophenol Monooxygenase ; genetics ; Mutation ; Pedigree ; Polymerase Chain Reaction ; Pregnancy ; Prenatal Diagnosis ; methods