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[Gene diagnosis of 3 haemophilia B families]

Yuan Zhang¹, Lin-Hua Yang, Ye-Ling Lu

¹Department of Hematology, the Second Hospital of Shanxi Medical University, Taiyuan 030001, China.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

|September 16, 2008

Abstract

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.

Results And Conclusion:

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.

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