机构：[1]Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People’s Republic of China,[2]MedicalLaboratory, First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong Province, People’s Republic of China,[3]Department of Biology, HanshanNormal University, Chaozhou, Guangdong Province, People’s Republic of China,[4]Department of Medical Laboratory, Hospital of Youjiang Medical University forNationalities, Baise, Guangxi Province, People’s Republic of China,[5]Medical Laboratory, First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi Province,People’s Republic of China,[6]Laboratory Medical Center, People’s Hospital of Yunan Province, Kunming, Yunnan Province, People’s Republic of China,[7]Department ofMedical Laboratory, Chengdu Women’s & Children’s Central Hospital, Chengdu, Sichuan Province, People’s Republic of China,[8]Laboratory Medical Center, NanfangHospital, Southern Medical University, Guangzhou, Guangdong Province, People’s Republic of China,[9]Medical Laboratory, Meixian People’s Hospital, Meizhou,Guangdong Province, People’s Republic of China
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.
基金：
e National Natural Science Foundation of China (contract/grant number 81101329 to Min Lin), Social
Development Program of Guangdong Province (contract/grant number 2011B031800329 to Min Lin), Natural Science Foundation for Young Scientists of Jiangxi
Province (contract/grant number 20122BAB215006 to Tian-Yu Zhong) and Foundation of the Health Department of Guangxi Province, China (contract/grant
number 2012713 and Z2012085 to Jun-Li Wang).
语种：
外文
PubmedID：
中科院(CAS)分区：
出版当年[2014]版：
大类|3 区生物
小类|3 区综合性期刊
最新[2023]版：
大类|3 区综合性期刊
小类|3 区综合性期刊
第一作者：
第一作者机构：[1]Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People’s Republic of China,[2]MedicalLaboratory, First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong Province, People’s Republic of China,
通讯作者：
推荐引用方式(GB/T 7714)：
Min Lin,Ji-Wei Jiao,Xiu-Hui Zhan,et al.High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population.[J].PloS one.2014,9(8):e102243.doi:10.1371/journal.pone.0102243.
APA：
Min Lin,Ji-Wei Jiao,Xiu-Hui Zhan,Xiao-Fen Zhan,Mei-Chen Pan...&Li-Ye Yang.(2014).High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population..PloS one,9,(8)
MLA：
Min Lin,et al."High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population.".PloS one 9..8(2014):e102243
