The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China
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 −α4.2 and...
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| Published in | Blood cells, molecules, & diseases Vol. 53; no. 1-2; pp. 16 - 20 |
|---|---|
| Main Authors | , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.06.2014
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1079-9796 1096-0961 1096-0961 |
| DOI | 10.1016/j.bcmd.2014.01.003 |
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| Abstract | 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 −α4.2 and −α3.7, 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 −α3.7 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 −α4.2 and −α3.7 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. |
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| AbstractList | 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. 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.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. 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 −α4.2 and −α3.7, 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 −α3.7 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 −α4.2 and −α3.7 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. |
| Author | Yao, Hongxia Wu, Congming Huang, Li Wang, Suwen Chen, Wenting Chen, Xinping Tang, Ruimei Rao, Ruo Lin, Lie Yao, Zhiming Ding, Yipeng Fu, Xiangjun Wang, Hua |
| Author_xml | – sequence: 1 givenname: Hongxia surname: Yao fullname: Yao, Hongxia email: Yaohongxia768@163.com organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 2 givenname: Xinping surname: Chen fullname: Chen, Xinping organization: Department of Central Laboratory, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 3 givenname: Lie surname: Lin fullname: Lin, Lie organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 4 givenname: Congming surname: Wu fullname: Wu, Congming organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 5 givenname: Xiangjun surname: Fu fullname: Fu, Xiangjun organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 6 givenname: Hua surname: Wang fullname: Wang, Hua organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 7 givenname: Zhiming surname: Yao fullname: Yao, Zhiming organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 8 givenname: Wenting surname: Chen fullname: Chen, Wenting organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 9 givenname: Li surname: Huang fullname: Huang, Li organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 10 givenname: Ruimei surname: Tang fullname: Tang, Ruimei organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 11 givenname: Ruo surname: Rao fullname: Rao, Ruo organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 12 givenname: Suwen surname: Wang fullname: Wang, Suwen organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China – sequence: 13 givenname: Yipeng surname: Ding fullname: Ding, Yipeng organization: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/24534675$$D View this record in MEDLINE/PubMed |
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| Keywords | Hainan Province Thalassemia Han people Population genetics Li people Genetic diagnosis |
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| SubjectTerms | Adolescent Adult Aged Aged, 80 and over Alleles alpha-Globins - genetics alpha-Thalassemia - epidemiology alpha-Thalassemia - genetics beta-Globins - genetics beta-Thalassemia - epidemiology beta-Thalassemia - genetics Child Child, Preschool China - epidemiology Ethnic Groups - genetics Gene Frequency Genetic diagnosis Genotype Geography Hainan Province Han people Humans Incidence Infant Li people Middle Aged Mutation Phenotype Population genetics Thalassemia Young Adult |
| Title | The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China |
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