Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft.
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.
Martinelli
M
M
Department of Morphology and Embryology, Section of Histology and Embryology, University of Ferrara, Italy.
Scapoli
L
L
Pezzetti
F
F
Carinci
F
F
Francioso
F
F
Baciliero
U
U
Padula
E
E
Carinci
P
P
Tognon
M
M
D002878:Chromosomes, Human, Pair 1; D002971:Cleft Lip / Q000453:epidemiology / Q000235:genetics*; D002972:Cleft Palate / Q000453:epidemiology / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D007558:Italy; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D018895:Microsatellite Repeats; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics; D010375:Pedigree; D018709:Statistics, Nonparametric
D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)