Identification and Genetic Analysis of a Factor IX Gene Intron 3 Mutation in a Hemophilia B Pedigree in China

Hemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. A wide range of mutations, showing extensive molecular heterogeneity, have been described in hemophilia B patients. Our study was aimed at genetic analysis and prenatal diagnosis of hemophilia...

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Bibliographic Details
Published in:Turkish journal of haematology 2014-09, Vol.31 (3), p.226-230
Main Authors: Cao, Dong-Hua, Liu, Xiao-Li, Mu, Kai, Ma, Xiang-Wei, Sun, Jing-Li, Bai, Xiao-Zhong, Lin, Chang-Kun, Jin, Chun-Lian
Format: Article
Language:English
Subjects:
factor ix
hemophilia b
intron 3
mrna splice site
mutation
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Summary:Hemophilia B is caused by coagulation defects in the factor IX gene located in Xq27.1 on the X chromosome. A wide range of mutations, showing extensive molecular heterogeneity, have been described in hemophilia B patients. Our study was aimed at genetic analysis and prenatal diagnosis of hemophilia B in order to further elucidate the pathogenesis of the hemophilia B pedigree in China. Polymerase chain reaction amplification and direct sequencing of all the coding regions was conducted in hemophilia B patients and carriers. Prenatal diagnosis of the proband was conducted at 20 weeks. We identified the novel point mutation 10.389 A>G, located upstream of the intron 3 acceptor site in hemophilia B patients. The fetus of the proband's cousin was identified as a carrier. Our identification of a novel mutation in the F9 gene associated with hemophilia B provides novel insight into the pathogenesis of this genetically inherited disorder and also represents the basis of prenatal diagnosis.
ISSN:1300-7777
1308-5263
DOI:10.4274/tjh.2013.0275