Eight regions corresponding to about 3 kb of the buffalo CFTR gene were amplified, using primers designed from the bovine CFTR gene, and sequenced to detect Single Nucleotide Polymorphisms (SNPs). In the whole, 12 polymorphic sites (9 transitions and 3 transversions) were observed, corresponding to an average density of 1 SNP every 250 bp. Out of the twelve polymorphic sites, three were in intron 8, one in exon 10, three in intron 10, three in exon 13, one in intron 13 and one in exon 19. Two SNPs in exon 13 are predicted to change the amino acid sequence (R to W and P to L, respectively). This initial SNP discovery phase will be further extended to include other CFTR target regions and to genotype larger samples in order to obtain reliable allele frequency estimates and to infer CFTR haplotypes that, together with the functional characterization of the sperm CFTR protein, will allow to evaluate the role of CFTR in sperm physiology.
Preliminary sequence analysis of the buffalo (Bubalus bubalis) CFTR gene.
CIANI, ELENA;Guerra, L.;Casavola, V.;
2009-01-01
Abstract
Eight regions corresponding to about 3 kb of the buffalo CFTR gene were amplified, using primers designed from the bovine CFTR gene, and sequenced to detect Single Nucleotide Polymorphisms (SNPs). In the whole, 12 polymorphic sites (9 transitions and 3 transversions) were observed, corresponding to an average density of 1 SNP every 250 bp. Out of the twelve polymorphic sites, three were in intron 8, one in exon 10, three in intron 10, three in exon 13, one in intron 13 and one in exon 19. Two SNPs in exon 13 are predicted to change the amino acid sequence (R to W and P to L, respectively). This initial SNP discovery phase will be further extended to include other CFTR target regions and to genotype larger samples in order to obtain reliable allele frequency estimates and to infer CFTR haplotypes that, together with the functional characterization of the sperm CFTR protein, will allow to evaluate the role of CFTR in sperm physiology.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
