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DNA-BASED PRENATAL DIAGNOSIS OF A KOREAN FAMILY WITH TYROSINASE-RELATED OCULOCUTANEOUS ALBINISM (OCA1)

Authors
 Seung-Taek LEE  ;  Sang-Kyu PARK  ;  Haeyul LEE  ;  Jin-Sung LEE  ;  Yong-Won PARK 
Citation
 JAPANESE JOURNAL OF HUMAN GENETICS, Vol.42(4) : 499-505, 1997 
Journal Title
 JAPANESE JOURNAL OF HUMAN GENETICS 
ISSN
 0916-8478 
Issue Date
1997
MeSH
Albinism, Oculocutaneous/diagnosis* ; Albinism, Oculocutaneous/genetics ; Asian Continental Ancestry Group ; Child, Preschool ; DNA/genetics ; Fetal Diseases/diagnosis* ; Fetal Diseases/genetics ; Humans ; Korea ; Male ; Monophenol Monooxygenase/deficiency ; Monophenol Monooxygenase/genetics* ; Mutation ; Prenatal Diagnosis*
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.
Full Text
https://www.nature.com/articles/jhg199743
DOI
10.1007/BF02767026
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Jin-Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/177314
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