DNA DIAGNOSTICS OF HEREDITARY ANGIOEDEMA AND THE CLINICAL SIGNIFICANCE OF THE SERPING1 GENE VARIANTS
https://doi.org/10.25557/2073-7998.2018.07.11-20
Abstract
The hereditary angioedema type I/II is included in group of orphan hereditary diseases for which there is an effective pathogenic treatment. The disease considerably diminishes the quality of the patient life and quite often leads to life threatening conplaints and death. According to foreign researches, almost all cases of the disease are caused by mutations in the SERPING1 gene. In this work search results of mutations in SERPING1 gene among 331 unrelated family and isolated Russian cases with hereditary angioedema by using the Sanger sequencing and the quantitative MLPA for all gene exons are presented. Total of 91 mutations, which cause or possibly cause angioedema, in 112 cases were revealed. Among these mutations 48% were not published in literature earlier. Ten bening or likely bening variants of the gene are also found. In the spectrum of the SERPING1 mutations, missens-mutations prevail, deletions, splice site mutations and nonsence-mutations are often observed, insertions, large deletions and indels is rarer. The analysis of the patient sample discovered a twofold predominance of female among the patients of the reason requires an additional research.
About the Authors
E. A. Bliznetz
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Ryadninskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. M. Galeeva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
I. A. Kuznetsova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. V. Dmitrieva
Institute of Immunology
Russian Federation
Russian Federation
T. V. Latysheva
Institute of Immunology
Russian Federation
Russian Federation
E. A. Latysheva
Institute of Immunology
Russian Federation
Russian Federation
M. N. Guseva
Consultative and Diagnostic Center of Saint-Petersburg State Pediatric Medical University; Saint-Petersburg Pasteur Institute
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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For citations:
Bliznetz E.A., Ryadninskaya N.V., Galeeva N.M., Kuznetsova I.A., Dmitrieva A.V., Latysheva T.V., Latysheva E.A., Guseva M.N., Polyakov A.V. DNA DIAGNOSTICS OF HEREDITARY ANGIOEDEMA AND THE CLINICAL SIGNIFICANCE OF THE SERPING1 GENE VARIANTS. Medical Genetics. 2018;17(7):11-20. (In Russ.) https://doi.org/10.25557/2073-7998.2018.07.11-20
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