The aim of this study was to investigate the spectrum of thalassemia mutations in Yunnan Province, Southwestern China. We detected 450 thalassemia patients and carriers by multiplex gap polymerase chain reaction (gap-PCR), PCR reverse dot-blot hybridization and direct sequencing methods in 535 suspected patients. Four types of alpha-thalassemia (alpha-thal) mutations, - -(SEA) (59.2%), -alpha(3.7) (rightward) (19.0%), Hb Constant Spring [Hb CS, alpha 142, Term -> Gln, TAA>CAA (alpha(2)), alpha(CS)alpha] (15.5%), and -alpha(4.2) (leftward) (6.34%) were detected. Six types of beta-thal mutations, the most prevalent being Hb E [beta 26(B8)Glu -> Lys, GAG>AAG or codon 26 (G>A)] (30.5%), followed by codon 17 (A>T) (20.8%), codons 41/42 (-TCTT) (17.5%), IVS-II-654 (C>T) (17.2%), -28 (A>G) (6.95%), and codons 71/72 (+A) (2.42%) were also detected. Other rare mutations were codons 27/28 (+C), IVS-I-1 (G>T), Hb New York [beta 113(G15)Val -> Glu, GTG>GAG], Hb D-Los Angeles [beta 121(GH4)Glu -> Gln, GAA>CAA], codon 5 (-CT), Hb G-Taipei [beta 22(B4)Glu -> Glu (GAA>GGA)], Hb J-Lome [beta 59(E3)Lys -> Asn (AAG>AAC)], Hb J-Bangkok [beta 56(D7)Gly -> Asp (GGC>GAC)], IVS-I-2 (T>C), and -31 (A>C). In this study, we provide a complete mutation spectrum of alpha- and beta-thal mutations and a valuable strategy for accurate molecular diagnostic testing in Yunnan Province, People's Republic of China (PRC).
基金：
National Natural Science Foundation (30760241), by Research Foundation
of Yunnan cited high-level personnel training project (20080C009), and by
Natural Science Foundation of Yunnan Province (2011FB224).
通讯机构：[1]First Peoples Hosp Yunnan Prov, Yunnan Prov Key Lab Birth Defects & Genet Dis, Genet Diag Ctr, Kunming 650032, Peoples R China[*1]Genetic Diagnosis Center, Yunnan Provincial Key Laboratory For Birth Defects and Genetic Diseases, The First People’s Hospital of Yunnan Province, 157 Jinbi Road, Kunming 650032, People’s Republic of China
推荐引用方式(GB/T 7714)：
Zhang Jie,Zhu Bao-Sheng,He Jing,et al.THE SPECTRUM OF alpha- AND beta-THALASSEMIA MUTATIONS IN YUNNAN PROVINCE OF SOUTHWESTERN CHINA[J].HEMOGLOBIN.2012,36(5):464-473.doi:10.3109/03630269.2012.717327.
APA：
Zhang, Jie,Zhu, Bao-Sheng,He, Jing,Zeng, Xiao-Hong,Su, Jie...&Zhang, Ying-Hong.(2012).THE SPECTRUM OF alpha- AND beta-THALASSEMIA MUTATIONS IN YUNNAN PROVINCE OF SOUTHWESTERN CHINA.HEMOGLOBIN,36,(5)
MLA：
Zhang, Jie,et al."THE SPECTRUM OF alpha- AND beta-THALASSEMIA MUTATIONS IN YUNNAN PROVINCE OF SOUTHWESTERN CHINA".HEMOGLOBIN 36..5(2012):464-473
