Article
T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.
Human genetics - 1 Jul 1991
Ketterling R P, Bottema C D, Koeberl D D, Ii S, Sommer S S
Abstract excerpt
By direct genomic sequencing, we have delineated the causative mutation in 64 families of European decent with hemophilia B. Six (9%) had a C----T transition at base 31008, which substitutes methionine for threonine 296 (T296----M) in the catalytic domain of factor IX. Five of the patients had the same haplotype (frequency of 16% in the northern European population). These individuals are of Amish/German descent...
Topics
- Base Sequence
- DNA
- Factor IX
- Female
- Genetic Carrier Screening
- Genetic Testing
- Genetic Variation
- Haplotypes
- Hemophilia B
- Humans
- Male