Direct carrier testing in 14 families with haemophilia B.
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.
Bottema
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CD
Department of Biochemistry and Molecular Biology, Mayo Clinic/Foundation, Rochester, Minnesota 55905.
Koeberl
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DD
Sommer
S S
SS
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
D005164:Factor IX; D012321:DNA-Directed RNA Polymerases; D004259:DNA-Directed DNA Polymerase; D004720:Endonucleases