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Combined segregation and linkage analysis of nonsyndromic orofacial cleft in two candidate regions

Published online by Cambridge University Press:  01 January 1999

C. SCAPOLI ,
A. COLLINS ,
M. MARTINELLI ,
F. PEZZETTI ,
L. SCAPOLI  and
M. TOGNON
C. SCAPOLI
Affiliation:
Department of Biology, Section of Genetics, University of Ferrara, 44100 Ferrara, Italy
A. COLLINS
Affiliation:
Wessex Human Genetics Institute, University of Southampton, Princess Anne Hospital, Southampton, UK
M. MARTINELLI
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
L. SCAPOLI
Affiliation:
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, 44100 Ferrara, Italy
M. TOGNON
Affiliation:
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, 44100 Ferrara, Italy
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Abstract

We applied a complex segregation analysis to 46 pedigrees with a total of 121 nuclear families and 660 individuals, to verify hypotheses regarding the inheritance of OFC and linkage with markers on chromosomes 6 and 2. The POINTER program for segregation analysis strongly rejected the hypothesis of no familial transmission of OFC in these families. When the hypothesis of a two-locus model was tested with COMDS, the analysis showed the presence of at least two loci and the model assuming a dominant major gene and a recessive modifier locus was statistically accepted. Given the fitted two-locus model, we tested for a possible linkage between the major OFC locus and the two markers studied. For D6S259, the estimate of the recombination fraction was θ=0.098, corresponding to a LOD score around 2.1. On the contrary, the data analysis concerning the D2S378 marker showed an estimate of the recombination fraction not significantly different from the independence hypothesis.

Type
Research Article
Information
Annals of Human Genetics , Volume 63 , Issue 1 , January 1999 , pp. 17 - 25
Copyright
University College London 1999

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