[Genotype Analysis of Patients with Thalassemia in Sanya Area of Hainan Province in China].
[Genotype Analysis of Patients with Thalassemia in Sanya Area of Hainan Province in China].
复制标题
DOI：
10.7534/j.issn.1009-2137.2018.04.033
复制
发表时间：
2018-08-01
期刊：
影响因子：
--
通讯作者：
Bo, Jian
中科院分区：
文献类型：
--
作者：
Li, Mengi;Xiang, Song-He;Bo, Jian
目的：了解海南省三亚地区人群地中海贫血基因突变的频率和谱。方法：采用Gap-PCR和反向点印迹（RDB）技术对1060例疑似地中海贫血患者的基因突变类型和频率进行分析。结果：539例疑似地中海贫血患者中检出地中海贫血基因突变，总检出率为50.85%(539/1060)，其中诊断为α -地中海贫血330例（31.13%），β -地中海贫血162例（15.28%），α -地中海贫血和β -地中海贫血同时携带者47例（4.43%）。α -地中海贫血患者基因型依次为SEA/ α - α(9.25%)、- α - 4.2/ α - α(5.94%)、HbH（5.56%）、- α - 3.7/ α - α(5.00%)、- α - 3.7/- α - 4.2（2.36%）、- α - 4.2/- α - 4.2（1.70%）、- α - 3.7/- α - 3.7（1.32%）。β -地中海贫血患者中有9个基因突变：CD41-42（9.8%）、CD17（1.32%）、654（1.23%）、CD71-72（1.23%）、IVS-II-654（1.04%）、-28（0.37%）、CD43（0.19%）、-29（0.18%）、betaE（0.09%）。α和β复合型地中海贫血有12个基因型。与-地中海贫血共存的基因型以- α 3.7/ α α最多（1.70%），其次是- α 4.2 / α α(0.94%)。结论：本研究提供了海南三亚地区地中海贫血基因突变的频率和谱，有助于制定该地区地中海贫血的预防和控制策略。
OBJECTIVE: To explore the frequency and spectrum of thalassemia gene mutations of the population in Sanya area of Hainan province in China.METHODS: The type and frequency of gene mutation in 1060 patients with suspected thalassemia were analyzed by Gap-PCR and reverse dot blot (RDB).RESULTS: The detection on mutation of thalassemia gene were found in 539 suspected thalassemia patients, the total detected rate was 50.85% (539/1060), out of them 330 (31.13%) were diagnosed with alpha-thalassemia, 162 (15.28%) with beta-thalassemia, and 47 (4.43%) as carriers of both alpha and beta-thalassemia. In alpha-thalassemia patients, genotype were as follows in proper order--SEA/alphaalpha (9.25%)、-alpha 4.2/alphaalpha (5.94%)，HbH (5.56%)，-alpha 3.7/alphaalpha (5.00%)，-alpha 3.7/-alpha 4.2 (2.36%)，-alpha 4.2/-alpha 4.2 (1.70%), and -alpha3.7/-alpha3.7(1.32%). In beta-thalassemia patients, there were 9 gene mutations: CD41-42 (9.8%), CD17 (1.32%), 654 (1.23%), CD71-72 (1.23%), IVS-II-654 (1.04%), -28 (0.37%), CD43 (0.19%), -29 (0.18%) and betaE (0.09%). In the alpha and beta composite thalassemia there were 12 genotypes. The -alpha3.7/alphaalpha was the most common genotype co-existed with beta-thalassemia (1.70%), followed by the -alpha 4.2 /alphaalpha genotype (0.94%).CONCLUSION: The data of this study provide the frequency and the spectrum of thalassemia gene mutations in the sanya area of Hainan province, which can contribute to set up the strategies for the prevention and control of thalassemia in this area.