title: Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family.
abstract: The occurrence of cystic fibrosis is very rare in the Asian population. Carriers of the mutations most commonly found in Caucasians were not detected in a large Asian population sample of almost 900 chromosomes. However, an affected Pakistani child born to consanguineous parents was further investigated and shown to be homozygous for the mutation S549N (G-->A). Molecular and clinical data are presented which may improve our understanding of the phenotypic effects of the S549N mutation in the CFTR gene.
authors.affiliation: Division of Human Genetics, University of Newcastle upon Tyne.
authors.forename: A
authors.initials: A
authors.lastname: Curtis
authors.forename: R J
authors.initials: RJ
authors.lastname: Richardson
authors.forename: J
authors.initials: J
authors.lastname: Boohene
authors.forename: A
authors.initials: A
authors.lastname: Jackson
authors.forename: R
authors.initials: R
authors.lastname: Nelson
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: D001208:Asia / Q000208:ethnology; D001483:Base Sequence; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004739:England / Q000453:epidemiology; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D007194:India / Q000208:ethnology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D010154:Pakistan / Q000208:ethnology; D010375:Pedigree; D017354:Point Mutation
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA