Rapid, accurate detection of TMPRSS6 gene causative mutations with a high-resolution melting assay

Mutations of the TMPRSS6 gene are considered the major genetic factors for iron-refractory iron deficiency anemia (IRIDA). Artificial clone libraries containing 17 known mutations of the TMPRSS6 gene were used to develop a high-resolution melting (HRM) assay for the detection of 17 TMPRSS6 gene muta...

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Bibliographic Details
Published in:Blood cells, molecules, & diseases molecules, & diseases, 2011-10, Vol.47 (3), p.198-204
Main Authors: Wu, He-Ming, Li, Liang, Yuan, Xiao-Wen, Zhou, Yu-Qiu, Xiao, Qi-Zhi, Liu, Wei-Yu, Zhou, Wan-Jun, Xu, Xiang-Min
Format: Article
Language:English
Subjects:
Adolescent
Adult
Anemia, Iron-Deficiency - genetics
Asian Continental Ancestry Group - genetics
Child
Child, Preschool
DNA Mutational Analysis - methods
Female
Genetic Predisposition to Disease
Genotyping
Genotyping Techniques - methods
Humans
IRIDA
Male
Membrane Proteins - analysis
Membrane Proteins - genetics
Mutation
Polymorphism, Single Nucleotide - genetics
Reproducibility of Results
Screening
Serine Endopeptidases - analysis
Serine Endopeptidases - genetics
SNP
TMPRSS6
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Summary:Mutations of the TMPRSS6 gene are considered the major genetic factors for iron-refractory iron deficiency anemia (IRIDA). Artificial clone libraries containing 17 known mutations of the TMPRSS6 gene were used to develop a high-resolution melting (HRM) assay for the detection of 17 TMPRSS6 gene mutations. The melting temperatures and melting curves were able to distinguish the different genotypes of the 17 TMPRSS6 gene mutations. We used replicate experiments to evaluate the reproducibility of the assay, and the coefficients of variation were in the range 0.0091% to 0.0873%. A total of 145 Chinese patients with IDA were screened with this assay and no TMPRSS6 gene causative mutation was found in any patient. The HRM assay was proved to be rapid, accurate and cost-effective method to identify the TMPRSS6 gene mutations and can be used in the clinical diagnosis of IRIDA. ► Clone libraries containing 17 known TMPRSS6 mutations were constructed. ► A PCR/HRM assay for detection of the 17 known TMPRSS6 mutations was developed. ► The HRM assay was proved to be rapid, accurate, reliable and cost-effective.
ISSN:1079-9796
1096-0961
DOI:10.1016/j.bcmd.2011.06.004