Combined segregation and linkage analysis of nonsyndromic orofacial cleft in two candidate regions
Combined segregation and linkage analysis of nonsyndromic orofacial cleft in two candidate regions
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.
17-25
Scapoli, Chiara
8d2a91c8-fe24-4e40-aaa6-d41e252f7369
Collins, A.
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Martinelli, M.
fd55679f-c0f4-4c0b-b2b4-ebd9b33a82c5
Pezzetti, F.
9dcc22db-3840-4f2d-80ae-a341055e92fd
Scapoli, L.
283e626c-5611-42ca-aee2-040af1989747
Tognon, M.
765093aa-e7a2-410a-912c-30245fa67a10
1 January 1999
Scapoli, Chiara
8d2a91c8-fe24-4e40-aaa6-d41e252f7369
Collins, A.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Martinelli, M.
fd55679f-c0f4-4c0b-b2b4-ebd9b33a82c5
Pezzetti, F.
9dcc22db-3840-4f2d-80ae-a341055e92fd
Scapoli, L.
283e626c-5611-42ca-aee2-040af1989747
Tognon, M.
765093aa-e7a2-410a-912c-30245fa67a10
Scapoli, Chiara, Collins, A., Martinelli, M., Pezzetti, F., Scapoli, L. and Tognon, M.
(1999)
Combined segregation and linkage analysis of nonsyndromic orofacial cleft in two candidate regions.
Annals of Human Genetics, 63 (1), .
(doi:10.1017/S0003480099007277).
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.
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Published date: 1 January 1999
Identifiers
Local EPrints ID: 470815
URI: http://eprints.soton.ac.uk/id/eprint/470815
ISSN: 0003-4800
PURE UUID: 60756842-4b84-438e-a9ff-912c8d583107
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Date deposited: 20 Oct 2022 16:35
Last modified: 17 Mar 2024 02:37
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Author:
Chiara Scapoli
Author:
M. Martinelli
Author:
F. Pezzetti
Author:
L. Scapoli
Author:
M. Tognon
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