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

S. T. Lee, S. K. Park, H. Lee, J. S. Lee, Y. W. Park

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12 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)499-505
Number of pages7
JournalJapanese Journal of Human Genetics
Issue number4
Publication statusPublished - 1997

Bibliographical note

Funding Information:
Agradecimento ao Professor M?rcio Peixoto de Sequeira Santos (em mem?ria), pela orienta??o da tese de doutorado na qual foi desenvolvido este trabalho e ao Conselho Nacional de Desenvolvimento Cient?fico e Tecnol?gico (CNPq) pela concess?o de bolsa de doutorado e de p?sdoutorado.

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


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