[Study on factor IX gene mutation in 74 hemophilia B patients].
OBJECTIVE
To investigate the distribution of the FIX gene mutations in hemophilia B(HB) and compare the mutation patterns between the Chinese HB and Caucasian HB.


METHODS
Genomic DNA was extracted from the blood samples of HB patients. Nine DNA segments of the FIX gene were amplified. Gene mutations of the amplified DNA segments were detected by direct sequencing.


RESULTS
Fifty eight independent mutations were detected and identified in 69 HB patients. Among them twenty nine mutations were novel and not reported before. A similar pattern of germline mutation was found in both Chinese HB and Caucasian HB patients.


CONCLUSIONS
No difference was observed in mutation patterns between Chinese and Caucasian HB.
Liu
J
J
Basic Medical Research Center, Beijing Chaoyang Hospital, Capital University of Medical Sciences, Beijing 100020, China.
Xiang
H
H
Liu
L
L
D000569:Americas; D044466:Asian People / Q000235:genetics*; D002681:China; D005164:Factor IX / Q000235:genetics*; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D012189:Retrospective Studies; D017384:Sequence Deletion / Q000235:genetics; D044465:White People / Q000235:genetics*
D005164:Factor IX