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 non-parametric 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 1q32-42.3 regions.
Martinelli M, S.L. (2001). Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft. ANNALS OF HUMAN GENETICS, 65(5), 465-471 [10.1017/S000348000100882X].
Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft
Martinelli MPrimo
Investigation
;Scapoli L
Secondo
Formal Analysis
;Pezzetti F;Carinci P;
2001
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 non-parametric 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 1q32-42.3 regions.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
