Cited 12 times in
DNA-BASED PRENATAL DIAGNOSIS OF A KOREAN FAMILY WITH TYROSINASE-RELATED OCULOCUTANEOUS ALBINISM (OCA1)
DC Field | Value | Language |
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dc.contributor.author | 이진성 | - |
dc.date.accessioned | 2020-07-03T17:09:38Z | - |
dc.date.available | 2020-07-03T17:09:38Z | - |
dc.date.issued | 1997 | - |
dc.identifier.issn | 0916-8478 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/177314 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Japan Society of Human Genetics | - |
dc.relation.isPartOf | JAPANESE JOURNAL OF HUMAN GENETICS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Albinism, Oculocutaneous/diagnosis* | - |
dc.subject.MESH | Albinism, Oculocutaneous/genetics | - |
dc.subject.MESH | Asian Continental Ancestry Group | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | DNA/genetics | - |
dc.subject.MESH | Fetal Diseases/diagnosis* | - |
dc.subject.MESH | Fetal Diseases/genetics | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Monophenol Monooxygenase/deficiency | - |
dc.subject.MESH | Monophenol Monooxygenase/genetics* | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Prenatal Diagnosis* | - |
dc.title | DNA-BASED PRENATAL DIAGNOSIS OF A KOREAN FAMILY WITH TYROSINASE-RELATED OCULOCUTANEOUS ALBINISM (OCA1) | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아청소년과학교실) | - |
dc.contributor.googleauthor | Seung-Taek LEE | - |
dc.contributor.googleauthor | Sang-Kyu PARK | - |
dc.contributor.googleauthor | Haeyul LEE | - |
dc.contributor.googleauthor | Jin-Sung LEE | - |
dc.contributor.googleauthor | Yong-Won PARK | - |
dc.identifier.doi | 10.1007/BF02767026 | - |
dc.contributor.localId | A03227 | - |
dc.relation.journalcode | J03817 | - |
dc.identifier.eissn | 0916-8478 | - |
dc.identifier.pmid | 9560949 | - |
dc.identifier.url | https://www.nature.com/articles/jhg199743 | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.affiliatedAuthor | 이진성 | - |
dc.citation.volume | 42 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 499 | - |
dc.citation.endPage | 505 | - |
dc.identifier.bibliographicCitation | JAPANESE JOURNAL OF HUMAN GENETICS, Vol.42(4) : 499-505, 1997 | - |
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