Carrier analysis of a moderately affected haemophilia B family.
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.
Holoshitz
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Department of Human Genetics, the University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.
Kurachi
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K
Kurachi
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S
D000483:Alleles; D005164:Factor IX / Q000235:genetics*; D005260:Female; D002836:Hemophilia B / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D011247:Pregnancy
D005164:Factor IX