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.
SCAPOLI L, MARCHESINI J, MARTINELLI M, PEZZETTI F, CARINCI F, PALMIERI A, et al. (2005). Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 132, 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
