title: DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1).
abstract: Tyrosinase-related oculocutaneous albinism (OCA1), an autosomal recessive inborn error of pigmentation, is caused by the deficiency of tyrosinase. We had previously identified two different mutations of the TYR gene in a four year old Korean male with mild OCA; a P310insC frameshift in exon 2 and an IVS2-7t-->a,-10-11deltt splice junction mutation in exon 3. Here we report a prenatal diagnostic study of a subsequent fetus of the above family that was at 25% risk of OCA1. SSCP/heteroduplex screening, restriction enzyme digestion, and allele-specific oligonucleotide hybridization analyses of DNA obtained by chorionic villus sampling indicated that the fetus was a compound heterozygote for the paternal P310insC and the maternal IVS2-7t-->a,-10-11deltt mutations. The diagnosis was later confirmed by observation of poorly pigmented irides of the abortus terminated at the 18th week of gestation. This approach provides a fast and reliable method for DNA-based prenatal diagnosis when specific mutations are known in families at high risk of OCA1.
authors.affiliation: Department of Biochemistry, College of Science, Yonsei University, Seoul, Korea.
authors.forename: S T
authors.initials: ST
authors.lastname: Lee
authors.forename: S K
authors.initials: SK
authors.lastname: Park
authors.forename: H
authors.initials: H
authors.lastname: Lee
authors.forename: J S
authors.initials: JS
authors.lastname: Lee
authors.forename: Y W
authors.initials: YW
authors.lastname: Park
mesh_terms: D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000235:genetics; D044466:Asian People; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007723:Korea; D008297:Male; D014442:Monophenol Monooxygenase / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D011296:Prenatal Diagnosis
chemical_list: D004247:DNA; D014442:Monophenol Monooxygenase