DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1)

Jpn J Hum Genet. 1997 Dec;42(4):499-505. doi: 10.1007/BF02767026.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Albinism, Oculocutaneous / diagnosis*
  • Albinism, Oculocutaneous / genetics
  • Asian People
  • Child, Preschool
  • DNA / genetics
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Humans
  • Korea
  • Male
  • Monophenol Monooxygenase / deficiency
  • Monophenol Monooxygenase / genetics*
  • Mutation
  • Prenatal Diagnosis*

Substances

  • DNA
  • Monophenol Monooxygenase