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Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft

Published online by Cambridge University Press:  09 January 2002

M. MARTINELLI ,
L. SCAPOLI ,
F. PEZZETTI ,
F. CARINCI ,
F. FRANCIOSO ,
U. BACILIERO ,
E. PADULA ,
P. CARINCI  and
M. TOGNON
M. MARTINELLI
Affiliation:
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, 44100 Ferrara, Italy Centre of Biotechnology, University of Ferrara, 44100 Ferrara, Italy
L. SCAPOLI
Affiliation:
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, 44100 Ferrara, Italy
F. PEZZETTI
Affiliation:
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, 44100 Ferrara, Italy
F. CARINCI
Affiliation:
Chair of Maxillo-Facial Surgery, University of Ferrara, 44100 Ferrara, Italy
F. FRANCIOSO
Affiliation:
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, 44100 Ferrara, Italy
U. BACILIERO
Affiliation:
Department of Maxillo-Facial Surgery, San Bortolo Hospital, 36100 Vicenza, Italy
E. PADULA
Affiliation:
Department of Maxillo-Facial Surgery, San Bortolo Hospital, 36100 Vicenza, Italy
P. CARINCI
Affiliation:
Institute of Histology and General Embryology, University of Bologna, 40126 Bologna, Italy Centre of Molecular Genetics, CARISBO Foundation, University of Bologna, 40126 Bologna, Italy
M. TOGNON
Affiliation:
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, 44100 Ferrara, Italy Centre of Biotechnology, University of Ferrara, 44100 Ferrara, Italy
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Abstract

Linkage analysis and mouse model knockout studies indicate that loci/genes mapping in different chromosome 1 regions are good candidates for nonsyndromic orofacial cleft (OFC) malformation. On this basis, three different regions of the chromosome 1 have been analysed, by linkage analysis, in 38 families with nonsyndromic OFC. Positive scores were obtained by pairwise analysis and a non-parametric linkage approach for the 1p36 region, with markers close to the MTHFR locus. Additional results allowed us to exclude the presence of an OFC susceptibility gene in the 1q21 and 1q32-42·3 regions.

Type
Review Article
Information
Annals of Human Genetics , Volume 65 , Issue 5 , September 2001 , pp. 465 - 471
Copyright
University College London 2001

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