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Article: A locus for congenital preauricular fistula maps to chromosome 8q11.1-q13.3

TitleA locus for congenital preauricular fistula maps to chromosome 8q11.1-q13.3
Authors
Zou, FPeng, YWang, XSun, ALiu, WBai, SZhu, HGao, BFeng, GHe, L
Keywords*Chromosome Mapping
*Chromosomes, Human, Pair 8
Ear, External/*abnormalities
Female
Genetic Linkage
Haplotypes
Humans
Intracellular Signaling Peptides and Proteins
Lod Score
Male
Nuclear Proteins
Pedigree
Protein Tyrosine Phosphatases
Trans-Activators/genetics
Issue Date2003
Citation
Journal of Human Genetics, 2003, v. 48 n. 3, p. 155-158 How to Cite?
DOI: http://dx.doi.org/10.1007/s100380300024
AbstractThe incidence of congenital preauricular fistula (CPF) is >1.1% in both Chinese and Caucasians, but it is even higher in Blacks. We mapped the locus for CPF to chromosome 8q11.1-q13.3 by linkage analysis of a family composed of 7 affected and 11 nonaffected members. The two-point LOD score was 2.40, shown by markers D8S285 and D8S1113 at a recombination fraction (theta) of 0.00. Results from three other markers (D8S1110, D8S260, and D8S1136) in the same region further support the linkage. Haplotype analysis for this family confined the locus to within an interval of approximately 26.7 cM, flanked by markers D8S532 and D8S279. A LOD score of <3 is likely due to the limitation of family size.
Persistent Identifierhttp://hdl.handle.net/10722/208440
ISSN
1434-5161
2023 Impact Factor: 2.6
2023 SCImago Journal Rankings: 1.148
ISI Accession Number ID
WOS:000181407100008

 

DC FieldValueLanguage
dc.contributor.authorZou, Fen_US
dc.contributor.authorPeng, Yen_US
dc.contributor.authorWang, Xen_US
dc.contributor.authorSun, Aen_US
dc.contributor.authorLiu, Wen_US
dc.contributor.authorBai, Sen_US
dc.contributor.authorZhu, Hen_US
dc.contributor.authorGao, Ben_US
dc.contributor.authorFeng, Gen_US
dc.contributor.authorHe, Len_US
dc.date.accessioned2015-03-11T03:01:00Z-
dc.date.available2015-03-11T03:01:00Z-
dc.date.issued2003en_US
dc.identifier.citationJournal of Human Genetics, 2003, v. 48 n. 3, p. 155-158en_US
dc.identifier.issn1434-5161en_US
dc.identifier.urihttp://hdl.handle.net/10722/208440-
dc.description.abstractThe incidence of congenital preauricular fistula (CPF) is >1.1% in both Chinese and Caucasians, but it is even higher in Blacks. We mapped the locus for CPF to chromosome 8q11.1-q13.3 by linkage analysis of a family composed of 7 affected and 11 nonaffected members. The two-point LOD score was 2.40, shown by markers D8S285 and D8S1113 at a recombination fraction (theta) of 0.00. Results from three other markers (D8S1110, D8S260, and D8S1136) in the same region further support the linkage. Haplotype analysis for this family confined the locus to within an interval of approximately 26.7 cM, flanked by markers D8S532 and D8S279. A LOD score of <3 is likely due to the limitation of family size.en_US
dc.languageengen_US
dc.relation.ispartofJournal of Human Geneticsen_US
dc.subject*Chromosome Mappingen_US
dc.subject*Chromosomes, Human, Pair 8en_US
dc.subjectEar, External/*abnormalitiesen_US
dc.subjectFemaleen_US
dc.subjectGenetic Linkageen_US
dc.subjectHaplotypesen_US
dc.subjectHumansen_US
dc.subjectIntracellular Signaling Peptides and Proteinsen_US
dc.subjectLod Scoreen_US
dc.subjectMaleen_US
dc.subjectNuclear Proteinsen_US
dc.subjectPedigreeen_US
dc.subjectProtein Tyrosine Phosphatasesen_US
dc.subjectTrans-Activators/geneticsen_US
dc.titleA locus for congenital preauricular fistula maps to chromosome 8q11.1-q13.3en_US
dc.typeArticleen_US
dc.identifier.emailGao, B: gaobo@hku.hken_US
dc.identifier.authorityGao, B=rp02012en_US
dc.identifier.doi10.1007/s100380300024en_US
dc.identifier.pmid12624728-
dc.identifier.scopuseid_2-s2.0-0344405720-
dc.identifier.volume48en_US
dc.identifier.issue3en_US
dc.identifier.spage155en_US
dc.identifier.epage158en_US
dc.identifier.isiWOS:000181407100008-
dc.identifier.issnl1434-5161-

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