Premium
Carrier analysis of a moderately affected haemophilia B family
Author(s) -
Holoshitz N.,
Kurachi K.,
Kurachi S.
Publication year - 2000
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1046/j.1365-2516.2000.00452.x
Subject(s) - haemophilia a , haemophilia b , medicine , restriction fragment length polymorphism , haemophilia , genetics , allele , polymorphism (computer science) , family history , mutation , factor ix , gene , genotype , pediatrics , biology
Here we report the successful genetic diagnosis of a pregnant caucasian female patient whose family has a history of moderate haemophilia B. While restriction fragment length polymorphism (RFLP) analysis was not informative, nucleotide sequencing of the factor IX genes of the patient’s family members determined that her mother and one of her two sisters were carriers of the mutation C31008T, which causes a Thr296Met transition. In contrast, the pregnant female herself and her other sister were found to carry only normal alleles. Plasma factor IX activity and antigen levels supported these findings.