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 language | English |
|---|---|
| Pages (from-to) | 499-505 |
| Number of pages | 7 |
| Journal | Japanese Journal of Human Genetics |
| Volume | 42 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 1997 Jan 1 |
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All Science Journal Classification (ASJC) codes
- Genetics(clinical)
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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 journal › Article
TY - JOUR
T1 - DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1)
AU - Lee, Seung-Taek
AU - Park, S. K.
AU - Lee, H.
AU - Lee, J. S.
AU - Park, Y. W.
PY - 1997/1/1
Y1 - 1997/1/1
N2 - 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.
AB - 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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U2 - 10.1007/BF02767026
DO - 10.1007/BF02767026
M3 - Article
VL - 42
SP - 499
EP - 505
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 4
ER -