Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations

Tingting Yu; Jing Dai; Hongjing Liu; Qiulan Ding; Yelin Lu; Hongli Wang; Xuefeng Wang; Qihua Fu

doi:10.1097/PAT.0b013e328353443d

Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations

Pathology. 2012 Jun;44(4):342-347. doi: 10.1097/PAT.0b013e328353443d.

Authors

Tingting Yu¹, Jing Dai², Hongjing Liu³, Qiulan Ding², Yelin Lu², Hongli Wang⁴, Xuefeng Wang⁵, Qihua Fu⁶

Affiliations

¹ Department of Laboratory Medicine, Shanghai Children's Medical Center.
² Department of Clinical Transfusion, Ruijin Hospital.
³ Department of Laboratory Medicine, Xinhua Hospital.
⁴ Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, P. R. China.
⁵ Department of Clinical Transfusion, Ruijin Hospital. Electronic address: wangxuefeng6336@hotmail.com.
⁶ Department of Laboratory Medicine, Shanghai Children's Medical Center. Electronic address: qfu@shsmu.edu.cn.

PMID: 28193338
DOI: 10.1097/PAT.0b013e328353443d

Abstract

Aims: Haemophilia B (HB) is an X-linked recessive haemorrhagic disorder caused by F9 mutations. In this study, we performed molecular analysis of 107 Chinese HB patients and analysed the F9 mutation spectrum of Chinese HB patients.

Methods: 107 Chinese HB patients were enrolled in this study. Direct sequencing of the whole F9 or mutation scanning of exon 1 to exon 7 by high resolution melting (HRM) curve analysis combined with direct sequencing of exon 8 was used to identify the mutations in these patients.

Results: 78 different F9 mutations were identified in the 107 HB patients. The mutations were composed of 50 missense mutations, 14 nonsense mutations, nine small deletions, three splice site mutations and two small insertions. Forty-three of 78 mutations were located in factor IX (FIX) catalytic domain. Among the 78 mutations, 20 have not been previously reported.

Conclusions: The F9 mutations were heterogenous and the missense mutations were the most prevalent gene defects in Chinese HB patients.

Keywords: F9; gene; haemophilia B; mutation.