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Linkage analysis of candidate endothelin pathway genes in nonsyndromic familial orofacial cleft

Published online by Cambridge University Press:  26 July 2016

F. PEZZETTI ,
L. SCAPOLI ,
M. MARTINELLI ,
F. CARINCI ,
G. BRUNELLI ,
F. P. CARLS ,
F. PALOMBA ,
F. GOMBOS ,
P. CARINCI  and
M. TOGNON
F. PEZZETTI
Affiliation:
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, Via Fossato di Mortara 64/B, 44100 Ferrara, Italy
L. SCAPOLI
Affiliation:
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, Via Fossato di Mortara 64/B, 44100 Ferrara, Italy
M. MARTINELLI
Affiliation:
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, Via Fossato di Mortara 64/B, 44100 Ferrara, Italy Centre of Biotechnology, University of Ferrara, Via Fossato di Mortara 64/B, 44100 Ferrara, Italy
F. CARINCI
Affiliation:
Chair of Maxillo-Facial Surgery, University of Ferrara, Corso Giovecca 203, 44100 Ferrara, Italy
G. BRUNELLI
Affiliation:
Chair of Maxillo-Facial Surgery, University of Ferrara, Corso Giovecca 203, 44100 Ferrara, Italy
F. P. CARLS
Affiliation:
Department of Maxillo-Facial Surgery, John Radcliffe Hospital, Oxford, UK
F. PALOMBA
Affiliation:
Odontoiatric Clinic 1, S.U.N., via S. Andrea delle Dame 6, 80100 Napoli, Italy
F. GOMBOS
Affiliation:
Odontoiatric Clinic 1, S.U.N., via S. Andrea delle Dame 6, 80100 Napoli, Italy
P. CARINCI
Affiliation:
Centre of Molecular Genetics, CARISBO Foundation, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy Institute of Histology and General Embryology, University of Bologna, Via Belmeloro 8, 40126 Bologna, Italy
M. TOGNON
Affiliation:
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, Via Fossato di Mortara 64/B, 44100 Ferrara, Italy Centre of Biotechnology, University of Ferrara, Via Fossato di Mortara 64/B, 44100 Ferrara, Italy
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Abstract

There is good evidence from linkage analysis and mouse model knockouts that the endothelin-1 gene (EDN1) is a good candidate for non-syndromic orofacial cleft (OFC) disease. EDN1 maps to the chromosomal region of the OFC1 locus in 6p23. Therefore we have examined three other candidate genes in the endothelin pathway (ECE1, EDNRA and EDNRB, which map to chromosomes 1, 4 and 13 respectively) in a linkage study of 9 families with OFC, where the disorder is not linked to chromosome 6p23. The total lod score for these 9 multiplex families never exceeded −2.00 and thus our data suggest that EDN1 and related genes are not involved in non-syndromic familial OFC.

Type
Research Article
Information
Annals of Human Genetics , Volume 64 , Issue 4 , July 2000 , pp. 341 - 347
Copyright
University College London 2000

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