| Journal: | Genetics and molecular biology |
| Database: | PERIÓDICA |
| System number: | 000459268 |
| ISSN: | 1415-4757 |
| Authors: | Zeng, XiangXing1 Liu, ZhiFang3 He, CaiHua2 Wang, Jia1 Yan, LiXiang1 |
| Institutions: | 1Heyuan Women and Children’s Hospital, Laboratory of Medical Genetics, Heyuan, Guangdong. China 2Heyuan Women and Children’s Hospital, Department of Clinical Laboratory, Heyuan, Guangdong. China 3Heyuan Health Supervision Institute, Department of Integrated Enforcement, Heyuan, Guangdong. China |
| Year: | 2022 |
| Volumen: | 45 |
| Number: | 4 |
| Country: | Brasil |
| Language: | Inglés |
| Document type: | Artículo |
| Approach: | Analítico, descriptivo |
| English abstract | Our aim was to investigate molecular features of thalassemia for proper clinical consultation and prevention in Heyuan. In our research, a total of 25,437 positive screening subjects were further subjected to a genetic analysis of α-thalassemia (α-thal) and β-thalassemia (β-thal). The deletion of α-thal mutation was tested by Gap-PCR, while the non-deletion of α-thal and β-thal mutation were identified by the PCR-reverse dot blot (PCR-RDB) technique. Nested PCR detected Hkαα/-- SEA and Hkαα/αα. Among the 25,437 positive screening subjects, 44.09% (11216/25437) subjects were bearers of thalassemia variations, and 30.85% (7847/25437) subjects showed α-thal changes alone. Among the 23 genotypes with α-thal mutation alone, the three common genotypes were --SEA/αα(68.34%), -α3.7/αα(16.44%), and -α4.2/αα(6.38%). Of the 11.50% (2924/25437) subjects and 29 genotypes with β-thal mutation alone, the three common genotypes were βCD41-42/βN(36.22%), βIVS-II-654/βN(30.88%), and β-28/βN(13.47%). Additionally, of the 1.75% (445/25437) subjects and 55 genotypes showed both α- and β-thal mutations. We also identified 269 cases of Hb H and six patients of Hkαα. Furthermore, the common genotypes of α-thal and β-thal mutations were consistent with allele frequencies of mutations. Our study establishes molecular features of thalassemia among Hakka people in Heyuan. It will be useful for developing strategies to prevent thalassemia |
| Disciplines: | Biología, Antropología |
| Keyword: | Genética, Antropología física, Biología molecular, Mutaciones, Hakka étnico, China, Talasemia |
| Keyword: | Genetics, Physical anthropology, Mutations, Molecular biology, Thalassemia, Ethnic Hakka, China |
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