title: High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population.
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.
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China; Medical Laboratory, First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong Province, People's Republic of China.
authors.forename: Min
authors.initials: M
authors.lastname: Lin
authors.affiliation: Department of Biology, Hanshan Normal University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Ji-Wei
authors.initials: JW
authors.lastname: Jiao
authors.affiliation: Department of Biology, Hanshan Normal University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Xiu-Hui
authors.initials: XH
authors.lastname: Zhan
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Xiao-Fen
authors.initials: XF
authors.lastname: Zhan
authors.affiliation: Medical Laboratory, First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong Province, People's Republic of China.
authors.forename: Mei-Chen
authors.initials: MC
authors.lastname: Pan
authors.affiliation: Department of Medical Laboratory, Hospital of Youjiang Medical University for Nationalities, Baise, Guangxi Province, People's Republic of China.
authors.forename: Jun-Li
authors.initials: JL
authors.lastname: Wang
authors.affiliation: Department of Medical Laboratory, Hospital of Youjiang Medical University for Nationalities, Baise, Guangxi Province, People's Republic of China.
authors.forename: Chun-Fang
authors.initials: CF
authors.lastname: Wang
authors.affiliation: Medical Laboratory, First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi Province, People's Republic of China.
authors.forename: Tian-Yu
authors.initials: TY
authors.lastname: Zhong
authors.affiliation: Laboratory Medical Center, People's Hospital of Yunan Province, Kunming, Yunnan Province, People's Republic of China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhang
authors.affiliation: Department of Medical Laboratory, Chengdu Women's & Children's Central Hospital, Chengdu, Sichuan Province, People's Republic of China.
authors.forename: Xia
authors.initials: X
authors.lastname: Yu
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Jiao-Ren
authors.initials: JR
authors.lastname: Wu
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Hui-Tian
authors.initials: HT
authors.lastname: Yang
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Fen
authors.initials: F
authors.lastname: Lin
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Xin
authors.initials: X
authors.lastname: Tong
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China; Laboratory Medical Center, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, People's Republic of China.
authors.forename: Hui
authors.initials: H
authors.lastname: Yang
authors.affiliation: Department of Biology, Hanshan Normal University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Guang-Cai
authors.initials: GC
authors.lastname: Zha
authors.affiliation: Laboratory Medical Center, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, People's Republic of China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Laboratory Medical Center, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong Province, People's Republic of China.
authors.forename: Lei
authors.initials: L
authors.lastname: Zheng
authors.affiliation: Medical Laboratory, Meixian People's Hospital, Meizhou, Guangdong Province, People's Republic of China.
authors.forename: Ying-Fang
authors.initials: YF
authors.lastname: Wen
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Li-Ye
authors.initials: LY
authors.lastname: Yang
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D004247:DNA / Q000097:blood / Q000235:genetics; D005820:Genetic Testing; D060005:Genotyping Techniques / Q000379:methods*; D005843:Geography; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009691:Nucleic Acid Denaturation / Q000235:genetics*; D015203:Reproducibility of Results; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D004247:DNA
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