title: Direct carrier testing in 14 families with haemophilia B.
abstract: Direct carrier testing was done in 54 at-risk female relatives of haemophilic patients by initially analysing 2.46 kb of the factor IX gene in 1 haemophiliac per family by genomic amplification with transcript sequencing. A presumptive mutation was found in all 14 haemophiliacs examined. Analyses were then done either by sequencing the appropriate region in at-risk female relatives or by detection of an altered restriction site. A simulation indicated that the mutation will be associated with an altered restriction site in about half the families. The technique has clinical application.
authors.affiliation: Department of Biochemistry and Molecular Biology, Mayo Clinic/Foundation, Rochester, Minnesota 55905.
authors.forename: C D
authors.initials: CD
authors.lastname: Bottema
authors.forename: D D
authors.initials: DD
authors.lastname: Koeberl
authors.forename: S S
authors.initials: SS
authors.lastname: Sommer
mesh_terms: D004259:DNA-Directed DNA Polymerase / Q000235:genetics; D012321:DNA-Directed RNA Polymerases / Q000235:genetics; D004720:Endonucleases / Q000378:metabolism; D005069:Evaluation Studies as Topic; D005164:Factor IX / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006239:Haplotypes; D002836:Hemophilia B / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014158:Transcription, Genetic
chemical_list: D005164:Factor IX; D012321:DNA-Directed RNA Polymerases; D004259:DNA-Directed DNA Polymerase; D004720:Endonucleases