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Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants
- Source :
- International Journal of Laboratory Hematology. 44:186-192
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
Abstract
- INTRODUCTION Hemophilia B is associated with molecular heterogeneity, with more than 1200 unique variants in the F9 gene. We hereby describe the mutational spectrum of severe hemophilia B patients presenting in a tertiary-care center in India. METHOD DNA was extracted from peripheral blood samples of 35 diagnosed severe hemophilia B patients belonging to 32 families, and were subjected to Sanger sequencing. Determination of the effect of novel variants on the protein structure and correlation between genotype and phenotype was attempted using in-silico tools. RESULTS Twenty-seven different mutations were detected in 30 probands, including 20 known and 7 novel variants. Also, we found one suspected case of whole gene deletion. The serine peptidase domain harbored most of the variants (48.1%). Inhibitory antibodies were found in two patients. CONCLUSIONS This study provides a comprehensive mutational spectrum and mutation screening strategy by Sanger sequencing of F9 gene in severe hemophilia B patients, in a resource-constraint setting.
- Subjects :
- Models, Molecular
Proband
medicine.medical_specialty
Genotype
Protein Conformation
DNA Mutational Analysis
Clinical Biochemistry
India
Biology
Hemophilia B
Factor IX
Structure-Activity Relationship
chemistry.chemical_compound
symbols.namesake
Genotype-phenotype distinction
Mutational hotspot
Molecular genetics
medicine
Humans
Family
Amino Acid Sequence
Gene
Alleles
Genetic Association Studies
Retrospective Studies
Genetics
Sanger sequencing
Biochemistry (medical)
Hematology
General Medicine
Molecular analysis
Cross-Sectional Studies
Phenotype
Amino Acid Substitution
chemistry
Mutation
symbols
DNA
Subjects
Details
- ISSN :
- 1751553X and 17515521
- Volume :
- 44
- Database :
- OpenAIRE
- Journal :
- International Journal of Laboratory Hematology
- Accession number :
- edsair.doi.dedup.....e8444ebeeb76e979b3ab079cde7adb3b