206 cases of children in Hunan β-thalassemia gene mutations of.docVIP

 PAGE \* MERGEFORMAT 13 206 cases of children in Hunan β-thalassemia gene mutations of Of: Li Wanli Zouai Jun Yang Haixia Jiang Xiaomei Zhang Cui Shan Wu Zheng Min Song before climbing [Abstract] Objective To analyze the Hunan province children’s β-thalassemia globin gene defect types, in order to carry out related research and therapy. Methods The blood routine examination, hemoglobin electrophoresis and osmotic fragility of red blood screening for thalassemia, the target gene was amplified by PCR, using reverse membrane hybridization target gene, to determine gene mutations, detected eight common Chinese people and 9 rare β-thalassemia gene mutation. Results 206 cases of children in β-thalassemia mutation type 17 species, were homozygous in 13 cases, genotype was the CD41-42 (2.43%), IVS-2- 654 (3.39%) and CD17 (0.49%), 175 patients with heterozygous, common genotype CD41-42 (40.77%), IVS-2-654 (22.81%), CD17 (7.76%), -28 (7.28 %), CD71-72 (2.43%); 18 cases of double heterozygotes, genotype CD41-42/IVS-2-654 (2.43%), IVS-2-654/-28 (1.94%), CD41-42 / CD17 (1.46%), IVS-2-654/CD17 (0.97%), CD41-42/CD27-28 (0.49%), IVS-2-654/CD71-72 (0.49%), IVS-2-654 / -29 (0.49%), CD41-42/-28 (0.49%). Conclusions This study found that children in Hunan Province in β-thalassemia β-globin gene in a total of 17 defect types, β-thalassemia gene mutations distribution of regional differences. [Keywords:] β-thalassemia β-globin gene analysis of gene mutations β-thalassemia is due to β-globin chain synthesis by partially or completely inhibited, resulting in peptide chain synthesis imbalance caused by a group of hereditary hemolytic anemia, is due to β-globin gene deletion or mutations in a group of hemoglobin disease, an autosomal dominant inheritance with incomplete disease, more common in southern China, the province is also more common. PROCEEDINGS OF [1] on the Shenzhen area 3068 population of childbearing age carry thalassemia gene found that the situation in Huna