...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>BMC Medical Genomics >Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China
【24h】

Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China

机译：贵州三级α-珠蛋白基因的患病率和临床表型及其在中国贵州的种族和地理分布

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

α-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of α-globin gene aberration for genetic counseling, we examined the prevalence of the α-globin triplication and the genotype–phenotype correlation in this subpopulation A cohort of 7644 subjects was selected from nine ethnicities covering four regions in Guizhou province of China. Peripheral blood was collected from each participant for routine blood testing and hemoglobin electrophoresis. PCR-DNA sequencing and Gap-PCR were used to identify the thalassemia gene mutations. Chi-square tests and one-way?analysis of variance (ANOVA) were used to statistically analyze the data. We found that the frequency of α-globin triplication in Guizhou province was 0.772% (59/7644). Genotypically, the αααanti4.2/αα accounted for 0.523% (40/7644), the αααanti3.7/αα for 0.235% (18/7644), and the αααanti3.7/–SEA for 0.013% (1/7644). The αααanti4.2/αα is more prevalent than the αααanti3.7/αα in Guizhou. In addition, the frequency of the HKαα/αα (that by GAP-PCR is like αααanti4.2/-α3.7) was 0.235% (18/7644). Ethnically, the Tujia group presented the highest prevalence (2.47%) of α-globin triplication. Geographically, the highest frequency of the α-globin triplication was identified in Qiannan region (2.23%). Of the triplicated α-globin cases, 5 coinherited with heterozygote β-thalassemia and presented various clinical manifestations of anemia. These data will be used to update the Chinese triplicated α-globin thalassemia database and provide insights into the pathogenesis of thalassemia. These findings will be helpful for the diagnosis of thalassemia and future genetic counseling in those regions.
机译：α地中海贫血是中国西南地区的贵州省地方病比较。为了预测遗传咨询的α-珠蛋白基因畸变的临床表现，我们检查了α-珠蛋白三份的患病率，并且在该亚群中的基因型 - 表型相关性占贵州省四个地区的九个民族的群组中国的。从每个参与者收集外周血以进行常规血液检测和血红蛋白电泳。使用PCR-DNA测序和GAP-PCR来鉴定地中海贫血基因突变。 Chi-Square测试和单程？使用差异分析（ANOVA）来统计分析数据。我们发现贵州省α-珠蛋白三份的频率为0.772％（59/7644）。基因型，ααAnti4.2/αα占0.523％（40/7644），αααanti3.7/αα为0.235％（18/7644），ααanti3.7/ -SEA为0.013％（1/7644）。 ααant4.2/αα比贵州的ααanti3.7/αα更普遍。另外，HKαα/αα的频率（通过GAP-PCR就像ααanti4.2/-α3.7）为0.235％（18/7644）。种族上，土家集团呈现出α-珠蛋白三份的最高流行（2.47％）。在地理上，在黔南地区鉴定了α-珠蛋白三份的最高频率（2.23％）。在三次α-珠蛋白病例中，5突然受到杂合子β-地中海贫血，并提出了贫血症的各种临床表现。这些数据将用于更新中文三次α-珠蛋白的母血症数据库，并提供洞察中西亚血症的发病机制。这些发现将有助于诊断那些地区的地中海贫血和未来的遗传咨询。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号