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

Seung-Taek Lee, S. K. Park, H. Lee, J. S. Lee, Y. W. Park

Research output: Contribution to journalArticle

11 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)499-505
Number of pages7
JournalJapanese Journal of Human Genetics
Volume42
Issue number4
DOIs
Publication statusPublished - 1997 Jan 1

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Oculocutaneous Albinism
Monophenol Monooxygenase
Prenatal Diagnosis
Mutation
DNA
Exons
Fetus
Chorionic Villi Sampling
Single-Stranded Conformational Polymorphism
Delayed Diagnosis
Pigmentation
Iris
Heterozygote
Oligonucleotides
Digestion
Alleles
Mothers
Observation
Pregnancy
Enzymes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

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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.",
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DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1). / Lee, Seung-Taek; Park, S. K.; Lee, H.; Lee, J. S.; Park, Y. W.

In: Japanese Journal of Human Genetics, Vol. 42, No. 4, 01.01.1997, p. 499-505.

Research output: Contribution to journalArticle

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