Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft

Abstract

Linkage analysis and mouse model knockout studies indicate that loci\genes mapping in different chromosome 1 regions are good candidates for nonsyndromic orofacial cleft (OFC) malformation. On this basis, three different regions of the chromosome 1 have been analysed, by linkage analysis, in 38 families with nonsyndromic OFC. Positive scores were obtained by pairwise analysis and a nonparametric linkage approach for the 1p36 region, with markers close to the MTHFR locus. Additional results allowed us to exclude the presence of an OFC susceptibility gene in the 1q21 and 1q32-42n3 regions.

Human genetic factors in nonsyndromic cleft lip and palate: An update

“…These results support the involvement of the folate pathway in the etiology of CLAEP, and indicate an effect of the maternal genotype, rather than influence of the embryo's genotype [99].…”

Non-syndromic orofacial clefts in Southern Italy: pattern analysis according to gender, history of maternal smoking, folic acid intake and familial diabetes

“…In Northern Italy, clefts have been extensively investigated both from epidemiological (Calzolari et al, 1988;Milan et al, 1994) and genetic points of view (Carinci et al, 1995;Scapoli et al, 1997Scapoli et al, ,1998Bosi et al, 1998;Martinelli et al, 1998;Pezzetti et al, 1998;Bodo et al, 1999;Pezzetti et al, 2000;Martinelli et al, 2001aMartinelli et al, , 2001bScapoli et al, 2002;Farina et al, 2002;Scapoli et al, 2004). However, data are lacking regarding Southern Italy.…”

TGFβ3 expression in non-syndromic orofacial clefts

“…In Italy clefts have been extensively investigated [13][14][15][16][17][18][19][20][21][22][23][24]. Specifically it was noted that TGFb3 has a positive load score in non-syndromic CL AE P and a potential role for TGFb3 in cleft diseases was proposed [11].…”