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Article: A locus for a human hereditary cataract is closely linked to the γ-crystallin gene family

TitleA locus for a human hereditary cataract is closely linked to the γ-crystallin gene family
Authors
Issue Date1987
PublisherNational Academy of Sciences. The Journal's web site is located at http://www.pnas.org
Citation
Proceedings Of The National Academy Of Sciences Of The United States Of America, 1987, v. 84 n. 2, p. 489-492 How to Cite?
AbstractWithin the human γ-crystallin gene cluster polymorphic Taq I sites are present. These give rise to three sets of allelic fragments from the γ-crystallin genes. Together these restriction fragment length polymorphisms define eight possible haplotypes, three of which (Q, R, and S) were found in the Dutch and English population. A fourth haplotype (P) was detected within a family in which a hereditary Coppock-like cataract of the embryonic lens nucleus occurs in heterozygotes. Haplotype P was found only in family members who suffered from cataract, and all family members who suffered from cataract had haplotype P. The absolute correlation between the presence of haplotype P and cataract within this family shows that the γ-crystallin gene cluster and the locus for the Coppock-like cataract are closely linked [logarithm of odds (lod) score of 7.58 at its maximum at θ = 0]. This linkage provides genetic evidence that the primary cause of a cataract in humans could possibly be a lesion in a crystallin gene.
Persistent Identifierhttp://hdl.handle.net/10722/44220
ISSN
2015 Impact Factor: 9.423
2015 SCImago Journal Rankings: 6.883
PubMed Central ID
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorLubsen, NHen_HK
dc.contributor.authorRenwick, JHen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-09-12T03:49:16Z-
dc.date.available2007-09-12T03:49:16Z-
dc.date.issued1987en_HK
dc.identifier.citationProceedings Of The National Academy Of Sciences Of The United States Of America, 1987, v. 84 n. 2, p. 489-492en_HK
dc.identifier.issn0027-8424en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44220-
dc.description.abstractWithin the human γ-crystallin gene cluster polymorphic Taq I sites are present. These give rise to three sets of allelic fragments from the γ-crystallin genes. Together these restriction fragment length polymorphisms define eight possible haplotypes, three of which (Q, R, and S) were found in the Dutch and English population. A fourth haplotype (P) was detected within a family in which a hereditary Coppock-like cataract of the embryonic lens nucleus occurs in heterozygotes. Haplotype P was found only in family members who suffered from cataract, and all family members who suffered from cataract had haplotype P. The absolute correlation between the presence of haplotype P and cataract within this family shows that the γ-crystallin gene cluster and the locus for the Coppock-like cataract are closely linked [logarithm of odds (lod) score of 7.58 at its maximum at θ = 0]. This linkage provides genetic evidence that the primary cause of a cataract in humans could possibly be a lesion in a crystallin gene.en_HK
dc.languageengen_HK
dc.publisherNational Academy of Sciences. The Journal's web site is located at http://www.pnas.orgen_HK
dc.relation.ispartofProceedings of the National Academy of Sciences of the United States of Americaen_HK
dc.subject.meshCataract - geneticsen_HK
dc.subject.meshCrystallins - geneticsen_HK
dc.subject.meshChromosomes, human, pair 2en_HK
dc.subject.meshDna restriction enzymesen_HK
dc.subject.meshNucleic acid hybridizationen_HK
dc.titleA locus for a human hereditary cataract is closely linked to the γ-crystallin gene familyen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0027-8424&volume=84&issue=2&spage=489&epage=492&date=1987&atitle=A+locus+for+a+human+hereditary+cataract+is+closely+linked+to+the+g-crystallin+gene+familyen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltexten_HK
dc.identifier.pmid3025877-
dc.identifier.pmcidPMC304234-
dc.identifier.scopuseid_2-s2.0-0023131304en_HK
dc.identifier.volume84en_HK
dc.identifier.issue2en_HK
dc.identifier.spage489en_HK
dc.identifier.epage492en_HK
dc.identifier.isiWOS:A1987F689000037-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLubsen, NH=7004416426en_HK
dc.identifier.scopusauthoridRenwick, JH=7004662129en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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