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EnglishFolate 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.
| Titolo: | Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases |
| Autore/i: | SCAPOLI, LUCA; MARCHESINI J; MARTINELLI, MARCELLA; PEZZETTI, FURIO; CARINCI F; PALMIERI, ANNALISA; RULLO R; GOMBOS F; TOGNON M; CARINCI, PAOLO |
| Autore/i Unibo: | |
| Anno: | 2005 |
| Rivista: | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1002/ajmg.a.30469 |
| 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. |
| Data prodotto definitivo in UGOV: | 2005-10-12 12:50:56 |
| Data stato definitivo: | 2018-03-28T11:35:58Z |
| Appare nelle tipologie: | 1.01 Articolo in rivista |
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