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.

Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases / SCAPOLI L; MARCHESINI J; MARTINELLI M; PEZZETTI F; CARINCI F; PALMIERI A; RULLO R; GOMBOS F; TOGNON M; CARINCI P.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - STAMPA. - 132:(2005), pp. 302-304. [10.1002/ajmg.a.30469]

Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases

SCAPOLI, LUCA;MARTINELLI, MARCELLA;PEZZETTI, FURIO;PALMIERI, ANNALISA;CARINCI, PAOLO
2005

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.
2005
Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases / SCAPOLI L; MARCHESINI J; MARTINELLI M; PEZZETTI F; CARINCI F; PALMIERI A; RULLO R; GOMBOS F; TOGNON M; CARINCI P.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - STAMPA. - 132:(2005), pp. 302-304. [10.1002/ajmg.a.30469]
SCAPOLI L; MARCHESINI J; MARTINELLI M; PEZZETTI F; CARINCI F; PALMIERI A; RULLO R; GOMBOS F; TOGNON M; CARINCI P.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/1153
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