Application of three intragenic DNA polymorphisms for carrier detection in haemophilia B.
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.
D003001:Cloning, Molecular; D004262:DNA Restriction Enzymes; D005164:Factor IX / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods; D002836:Hemophilia B / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D010375:Pedigree; D011110:Polymorphism, Genetic
D005164:Factor IX; D004262:DNA Restriction Enzymes