title: Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A.
abstract: Seventy-five unrelated hemophilia A patients from India were analyzed for factor VIII gene defects. Intron 22 inversion was identified in 22 patients and intron 1 inversion in 2 patients. In the remaining 51 patients without inversions screening the FVIII gene by denaturing high performance liquid chromatography (DHPLC) revealed 42 different mutations in 44 unrelated subjects. These included 14 missense, 7 nonsense, 9 splice site, 8 deletional, 3 insertional mutations and one indel mutation. Of these, 32 were novel gene alterations. The hotspots included intron 22 inversion, CpG and adenine runs.
authors.forename: Rafeeq P H
authors.initials: RP
authors.lastname: Ahmed
authors.forename: Vytautas
authors.initials: V
authors.lastname: Ivaskevicius
authors.forename: Meganathan
authors.initials: M
authors.lastname: Kannan
authors.forename: Erhard
authors.initials: E
authors.lastname: Seifried
authors.forename: Johannes
authors.initials: J
authors.lastname: Oldenburg
authors.forename: Renu
authors.initials: R
authors.lastname: Saxena
mesh_terms: D001665:Binding Sites; D002851:Chromatography, High Pressure Liquid; D018899:CpG Islands; D004252:DNA Mutational Analysis; D005091:Exons; D005169:Factor VIII / Q000235:genetics*; D017353:Gene Deletion; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007194:India; D007438:Introns; D009154:Mutation
chemical_list: D005169:Factor VIII