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- Title
High Resolution Melting Analysis: A Rapid Screening and Typing Tool for Common β-Thalassemia Mutation in Chinese Population.
- Authors
Lin, Min; Jiao, Ji-Wei; Zhan, Xiu-Hui; Zhan, Xiao-Fen; Pan, Mei-Chen; Wang, Jun-Li; Wang, Chun-Fang; Zhong, Tian-Yu; Zhang, Qin; Yu, Xia; Wu, Jiao-Ren; Yang, Hui-Tian; Lin, Fen; Tong, Xin; Yang, Hui; Zha, Guang-Cai; Wang, Qian; Zheng, Lei; Wen, Ying-Fang; Yang, Li-Ye
- Abstract
β-thalassemia is a common inherited disorder worldwide including southern China, and at least 45 distinct β-thalassemia mutations have been identified in China. High-resolution melting (HRM) assay was recently introduced as a rapid, inexpensive and effective method for genotyping. However, there was no systemic study on the diagnostic capability of HRM to identify β-thalassemia. Here, we used an improved HRM method to screen and type 12 common β-thalassemia mutations in Chinese, and the rapidity and reliability of this method was investigated. The whole PCR and HRM procedure could be completed in 40 min. The heterozygous mutations and 4 kinds of homozygous mutations could be readily differentiated from the melting curve except c.-78A>G heterozygote and c.-79A>G heterozygote. The diagnostic reliability of this HRM assay was evaluated on 756 pre-typed genomic DNA samples and 50 cases of blood spots on filter paper, which were collected from seven high prevalent provinces in southern China. If c.-78A>G heterozygote and c.-79A>G heterozygote were classified into the same group (c.-78&79 A>G heterozygote), the HRM method was in complete concordance with the reference method (reverse dot blot/DNA-sequencing). In a conclusion, the HRM method appears to be an accurate and sensitive method for the rapid screening and identification of β-thalassemia mutations. In the future, we suggest this technology to be used in neonatal blood spot screening program. It could enlarge the coverage of β-thalassemia screening program in China. At the same time, its value should be confirmed in prospectively clinical and epidemiological studies.
- Subjects
THALASSEMIA; HIGH resolution imaging; GENETIC mutation; CHINESE people; MEDICAL screening; CELL differentiation; EPIDEMIOLOGY education; DISEASES
- Publication
PLoS ONE, 2014, Vol 9, Issue 8, p1
- ISSN
1932-6203
- Publication type
Article
- DOI
10.1371/journal.pone.0102243