Genetic analysis for a haemophilia B family with multi nucleotides deletion mutation of F9 gene
10.3760/cma.j.issn.1009-9158.2018.09.010
- VernacularTitle:F9基因多碱基缺失突变导致乙型血友病家系遗传学分析
- Author:
Tao LI
1
;
Xue LYU
;
Hai XIAO
;
Qiannan GUO
;
Hongdan WANG
;
Bo ZHANG
;
Chaoyang ZHANG
;
Xin WANG
;
Poshi XU
;
Shixiu LIAO
Author Information
1. 河南省人民医院、阜外华中心血管病医院、河南省人民医院心脏中心、郑州大学人民医院医学检验科
- Keywords:
Hemophilia B;
Gene deletion;
Prenatal diagnosis;
Genetic testing
- From:
Chinese Journal of Laboratory Medicine
2018;41(9):675-679
- CountryChina
- Language:Chinese
-
Abstract:
Objective To conduct genetic diagnosis and prenatal diagnosis for a haemophilia B family with multi-nucleotides deletion mutation of F9 gene.Methods This is a genetic analysis.Whole exon mutation of the F9 gene was analyzed by PCR and Sanger sequencing for seven patients with the family of hemophilia B who consulted doctors in Henan Province People′s Hospital in April 2013.Suspected mutation was verified among non-hemophilia B members of the family and 100 healthy controls to rule out genetic polymorphism of the F9 gene.The above-mentioned detection results of hemophilia B gene , the pathogenic mutation of F9 gene in the family was clarified , and prenatal diagnosis was conducted for the female carriers in the family.It is recommended that the fetal gene detection should be conducted in amniotic fluid in the mid-term pregnancy of the female carriers of hemophilia , and then they can be informed of the non-hemophilia B fetus by the results of the gene detection .Results PCR and sequencing analysis has identified a deletion mutation of F9 gene c.185_188delGAGA[p.Glu62Asnfs?41]in seven hemophilia B patients.This mutation induced F9 gene frame shift mutation which led to early termination of F9 gene translation because there was a termination codon TAA at the 41th codon after the mutation site.The same mutation was not found among the non-hemophilia B members of the family and the 100 healthy controls. There were eight female carriers and nine female non-carriers in the family.Upon prenatal diagnosis , the Y chromosome sex-determining gene ( SRY ) in amniotic fluid was positive and no deletion mutation was observed in the F9 gene c.185_188.Conclusion The pathogenic mutation of F9 gene in the family was identified , which was helpful for prenatal diagnosis in female carriers .
