Yao Hongxia, Chen Xinping, Lin Lie, Wu Congming, Fu Xiangjun, Wang Hua, Yao Zhiming, Chen Wenting, Huang Li, Tang Ruimei, Rao Ruo, Wang Suwen, Ding Yipeng
Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
Department of Central Laboratory, People's Hospital of Hainan Province, Haikou 570311, PR China.
Blood Cells Mol Dis. 2014 Jun-Aug;53(1-2):16-20. doi: 10.1016/j.bcmd.2014.01.003. Epub 2014 Feb 16.
This study examines the frequency and spectrum of α- and β-thalassemia (thal) mutations of the Li people in Hainan Province of China. We have analyzed by genotyping a sample of 8600 subjects of the Li people and found that 53.45% subjects have only α-thal mutations with high frequencies of -α(4.2) and -α(3.7), but fewer --(SEA) mutation; 3.83% have β-thal mutations all identified to be 41/42 (-TCTT); whereas 7.99% carry both α-thal and β-thal mutations. We also examined 9800 subjects of the Han people, and the result showed 12.16% subjects have only α-thal mutations with --(SEA) and -α(3.7) the most frequent mutation types, 6.11% have only β-thal mutations of 7 types, whereas 4.85% carry both α-thal and β-thal mutations. Our study demonstrated that the Li people in Hainan province have a high incidence of -α(4.2) and -α(3.7) thalassemia, low frequencies of α-thal -(SEA), and a novel β mutation, 41/42 (-TCTT). We provide the complete spectrum of α-thal and β-thal mutations and a strategy for accurate molecular diagnostic testing in the Li people in Hainan Province of Southern China.
本研究调查了中国海南省黎族人群α和β地中海贫血（地贫）突变的频率和谱系。我们通过基因分型分析了8600名黎族受试者的样本，发现53.45%的受试者仅携带α地贫突变，其中-α(4.2)和-α(3.7)频率较高，而--(SEA)突变较少；3.83%携带β地贫突变，均为41/42(-TCTT)；7.99%同时携带α地贫和β地贫突变。我们还检测了9800名汉族受试者，结果显示12.16%的受试者仅携带α地贫突变，其中--(SEA)和-α(3.7)是最常见的突变类型，6.11%仅携带7种类型的β地贫突变，而4.85%同时携带α地贫和β地贫突变。我们的研究表明，海南省黎族人群-α(4.2)和-α(3.7)地贫发病率高，α地贫-(SEA)频率低，且存在一种新的β突变41/42(-TCTT)。我们提供了中国南方海南省黎族人群α地贫和β地贫突变的完整谱系以及准确分子诊断检测的策略。
