title: Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.
abstract: We have studied a patient with Ehlers-Danlos syndrome type IV. Protein mapping studies of her type III collagen had indicated that cyanogen bromide fragment 9 contained the site of the mutation. Here we describe the mapping of this region for a single base mutation using a chemical modification and cleavage technique. Sequence analysis of cDNA showed a G to T mutation resulting in the substitution of glycine 910 by valine. This was confirmed by allele specific oligonucleotide hybridisation to the proband's genomic DNA.
authors.affiliation: Dermatology Research Group, Clinical Research Centre, Northwick Park Hospital, Harrow, Middlesex.
authors.forename: A J
authors.initials: AJ
authors.lastname: Richards
authors.forename: J C
authors.initials: JC
authors.lastname: Lloyd
authors.forename: P N
authors.initials: PN
authors.lastname: Ward
authors.forename: A
authors.initials: A
authors.lastname: De Paepe
authors.forename: P
authors.initials: P
authors.lastname: Narcisi
authors.forename: F M
authors.initials: FM
authors.lastname: Pope
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D005998:Glycine; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D014633:Valine
chemical_list: D003094:Collagen; D004247:DNA; D014633:Valine; D005998:Glycine