[Gene diagnosis of 3 haemophilia B families].
OBJECTIVE
To explore factor IX gene mutations and molecular mechanism of haemophilia B in 3 unrelated families.


METHODS
The activated partial thromboplastin time (APTT) and FIX activity (FIX: C) assay were used for phenotypic diagnosis. The STR loci gene polymorphisms for genetic linkage analysis in the patients and their family members were assayed. All of the 8 exons and the exon-intron boundaries of FIX gene were amplified by polymerase chain reaction (PCR) and direct sequencing.


CONCLUSIONS
Mutations were found in the FIX gene of the propositi. Proband 1 had a G22119A mutation in exon 6, proband 2 a G7392C mutation in exon 2 and proband 3 a T32685C mutation in exon 8.
Zhang
Yuan
Y
Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.
Yang
Lin-Hua
LH
Lu
Ye-Ling
YL
Ding
Qiu-Lan
QL
Wang
Xue-Feng
XF
Liu
Xiu-E
XE
Zhang
Li
L
D004252:DNA Mutational Analysis; D005164:Factor IX / Q000235:genetics*; D008040:Genetic Linkage; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic
D005164:Factor IX