Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases.
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
Luca
L
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
Marchesini
Jlenia
J
Martinelli
Marcella
M
Pezzetti
Furio
F
Carinci
Francesco
F
Palmieri
Annalisa
A
Rullo
Rosario
R
Gombos
Fernando
F
Tognon
Mauro
M
Carinci
Paolo
P
D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002971:Cleft Lip / Q000150:complications / Q000235:genetics* / Q000473:pathology; D002972:Cleft Palate / Q000150:complications*; D005192:Family Health; D005260:Female; D058975:Folate Receptor 1; D058973:Folate Receptors, GPI-Anchored; D006801:Humans; D015810:Linkage Disequilibrium; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D005810:Multigene Family / Q000235:genetics; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*; D013577:Syndrome
D002352:Carrier Proteins; C548696:FOLR1 protein, human; D058975:Folate Receptor 1; D058973:Folate Receptors, GPI-Anchored; D011956:Receptors, Cell Surface