title: Single nucleotide polymorphisms of the fukutin gene.
abstract: Mutations in the LMNA gene, which encodes nuclear lamins A and C, underlie both Emery-Dreifuss muscular dystrophy (EMD2) and Dunnigan-type familial partial lipodystrophy (FPLD). This indicates that one gene can cause different phenotypes characterized by tissue degeneration. The gene for one form of Berardinelli-Seip-type congenital total lipodystrophy (BSCL) has been mapped to chromosome 9q34. Based on the observation that one gene caused both FPLD and EMD2, we considered that a known gene for muscular dystrophy at or near the BSCL locus on chromosome 9q would be an appropriate candidate for BSCL. The gene encoding fukutin, which is mutated in Fukuyama congenital muscular dystrophy has been mapped to 9q31. We thus developed amplification primers for the coding regions of the fukutin gene. We found no putative disease mutations, but through screening of diseased and normal subjects, we identified three novel single nucleotide polymorphisms (SNPs). We conclude that mutations in fukutin are not present in subjects with BSCL. However, the identification of SNPs provides tools to investigate this protein for association with other phenotypes.
authors.affiliation: Blackburn Cardiovascular Genetics Laboratory, John P. Robarts Research Institute, London, ON, Canada.
authors.forename: H
authors.initials: H
authors.lastname: Cao
authors.forename: J
authors.initials: J
authors.lastname: Yuen
authors.forename: R A
authors.initials: RA
authors.lastname: Hegele
mesh_terms: D001483:Base Sequence; D005091:Exons; D005784:Gene Amplification; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008060:Lipodystrophy / Q000235:genetics*; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D021141:Nucleic Acid Amplification Techniques; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*
chemical_list: C113587:FKTN protein, human; D008565:Membrane Proteins; D011506:Proteins