Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases |
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| Authors: | Scapoli Luca Marchesini Jlenia Martinelli Marcella Pezzetti Furio Carinci Francesco Palmieri Annalisa Rullo Rosario Gombos Fernando Tognon Mauro Carinci Paolo |
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| Affiliation: | Department of Morphology and Embryology, Section of Histology and Embryology, Chair of Applied Biology and Center of Biotechnology, University of Ferrara, Via Fossato di Mortara, Ferrara, Italy. scl@unife.it |
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| Abstract: | Folate receptor family members (FOLRs) mediate the delivery of 5-methyltetrahydrofolate to the interior of, out of within, or between cells in a process known as potocytosis. Three FOLRs and a pseudogene map to 11q13.4. The aim of this study was to verify whether FOLRs could be responsible for the onset of nonsyndromic cleft lip with or without cleft palate (CL/P). Linkage and linkage disequilibrium between genetic markers and disorder were analyzed. Patients and their mothers from 71 familial CL/P pedigrees and 75 sporadic cases from Italian population were investigated by PCR-SSCP analysis. Data from mutation scanning allowed us to find only a silent mutation in FOLR1 present in a mother and her child. Our findings do not support FOLR1 and FOLR2 genes in the onset of CL/P. |
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