title: Molecular analysis of an extended Palestinian family from Israel with monilethrix.
abstract: We describe the molecular analysis of a large three generation Palestinian family segregating for monilethrix. Previous reports have shown that mutations in type-II hair cortex keratin genes, hHb1 and hHb6, are associated with monilethrix. Genetic linkage analysis performed on this family using markers flanking the hHb6 gene exhibited strong evidence for linkage. Sequence analysis revealed a nucleotide substitution of G --> T at nucleotide 1230 resulting in a glutamic acid to aspartic acid amino acid substitution at codon 410, identical to that reported in a French family. The family in our study provides further evidence that mutations of the hHb6 gene are responsible for monilethrix.
authors.affiliation: Department of Medicine, University of Minnesota, Minneapolis 55455, USA. bill@lenti.med.umn.edu
authors.forename: W S
authors.initials: WS
authors.lastname: Oetting
authors.forename: J P
authors.initials: JP
authors.lastname: Fryer
authors.forename: Z
authors.initials: Z
authors.lastname: Wyman
authors.forename: A
authors.initials: A
authors.lastname: Shtorch
authors.forename: M
authors.initials: M
authors.lastname: Cordoba
authors.forename: A
authors.initials: A
authors.lastname: Lazarov
authors.forename: O
authors.initials: O
authors.lastname: Reish
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D018912:Arabs; D001483:Base Sequence; D004252:DNA Mutational Analysis; D007644:Darier Disease / Q000175:diagnosis / Q000235:genetics*; D005190:Family; D008040:Genetic Linkage; D005819:Genetic Markers; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007557:Israel / Q000208:ethnology; D008297:Male; D008967:Molecular Biology / Q000379:methods; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers