A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A
- 1 January 1986
- journal article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 14 (11) , 4535-4542
- https://doi.org/10.1093/nar/14.11.4535
Abstract
A restriction fragment length polymorphism (RFLP) has been found in the gene for clotting factor VIII. Defects in this gene are the cause of hemophilia A. The DNA polymorphism affects an XbaI site in intron 22 of the gene. Two alleles occur in a frequency of 59 and 41 percent of the X chromosomes tested. Furthermore, about 25 percent of females who are homozygous for the previously reported BclI RFLP in the factor VIII gene are heterozygous for the XbaI polymorphism. This new RFLP thus represents a significant addition to available probes for the DNA-based prenatal diagnosis and carrier detection of this disease.Keywords
This publication has 12 references indexed in Scilit:
- CARRIER TESTING STRATEGY IN HAEMOPHILIA AThe Lancet, 1986
- LINKED AND INTRAGENIC PROBES FOR HAEMOPHILIA AThe Lancet, 1985
- Hemophilia ANew England Journal of Medicine, 1985
- First trimester prenatal diagnosis and detection of carriers of haemophilia A using the linked DNA probe DX13.BMJ, 1985
- ANTENATAL DIAGNOSIS AND CARRIER DETECTION OF HAEMOPHILIA A USING FACTOR VIII GENE PROBEThe Lancet, 1985
- Molecular cloning of a cDNA encoding human antihaemophilic factorNature, 1984
- Expression of active human factor VIII from recombinant DNA clonesNature, 1984
- Characterization of the human factor VIII geneNature, 1984
- Polymorphic DNA region adjacent to the 5' end of the human insulin gene.Proceedings of the National Academy of Sciences, 1981
- Efficient transcription of RNA into DNA by avian sarcoma virus polymeraseBiochimica et Biophysica Acta (BBA) - Nucleic Acids and Protein Synthesis, 1976