Application of three intragenic DNA polymorphisms for carrier detection in haemophilia B.
- 1 August 1986
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 23 (4) , 300-309
- https://doi.org/10.1136/jmg.23.4.300
Abstract
In the west of Scotland use of a single intragenic restriction fragment length polymorphism (F9(VIII)/TaqI) allowed definitive genetic counselling for 45% of females at risk of being carriers for haemophilia B. Two further intragenic RFLPs, F9(VIII)/XmnI) and F9(VIII)/DdeI, have been applied to this population and by using all three polymorphisms the carrier status could be determined in 68% of females at risk. Linkage disequilibrium was apparent between these three RFLPs, and in the west of Scotland the single most clinically useful polymorphism was F9(VIII)/TaqI followed by F9(VIII)/DdeI and then F9(VIII)/XmnI. Overall, prenatal diagnosis by DNA analysis could be offered to 31 of 37 (84%) carriers (obligate and detected) in these families.This publication has 14 references indexed in Scilit:
- ANTENATAL DIAGNOSIS AND CARRIER DETECTION OF HAEMOPHILIA A USING FACTOR VIII GENE PROBEThe Lancet, 1985
- Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphismsNucleic Acids Research, 1984
- Population genetics of C4 with the use of complementary DNA probesPhilosophical Transactions of the Royal Society of London. B, Biological Sciences, 1984
- Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene.Journal of Clinical Investigation, 1984
- CHARACTERISATION AND USE OF AN INTRAGENIC POLYMORPHIC MARKER FOR DETECTION OF CARRIERS OF HAEMOPHILIA B (FACTOR IX DEFICIENCY)The Lancet, 1984
- CARRIER DETECTION BY DIRECT GENE ANALYSIS IN A FAMILY WITH HAEMOPHILIA B (FACTOR IX DEFICIENCY)The Lancet, 1984
- Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.Proceedings of the National Academy of Sciences, 1983
- Gene deletions in patients with haemophilia B and anti-factor IX antibodiesNature, 1983
- Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene clusterNature, 1982
- Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.Proceedings of the National Academy of Sciences, 1978