...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genetic testing and molecular biomarkers >Hemoglobin Showa-Yakushiji: A Common β Thalassemia Mutation Among the Agri Community from Western India
【24h】

Hemoglobin Showa-Yakushiji: A Common β Thalassemia Mutation Among the Agri Community from Western India

机译：血红蛋白Showa-Yakushiji:常见β地中海贫血突变在西部的农业社区印度

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Introduction: β thalassemia is one of the commonest inherited hemoglobin disorders. The prevalence of β thalassemia varies between 3% and 17% in various caste groups found in India. Hemoglobin Hb Showa Yakushiji results from a single nucleotide change at codon 110(CTG→CCG) in β globin gene. From earlier investigations, it was observed that Hb Showa Yakushiji was present in four Agri families who were referred for prenatal diagnosis. There are no reports on the prevalence of b thalassemia mutations from the Agri community. Aims: To find out the prevalence of β Thalassemia and Hb Showa Yakushiji among the Agri community. Result and Conclusion: Testing was conducted in the Agri dominated area around Navi Mumbai. Seven hundred ninety-five blood samples from unrelated Agri individuals were collected. Carrier detection for β thalassemia was done by using standard hematological procedures followed by characterization of mutations. The prevalence of β thalassemia among Agris was found to be 3.64%. Prevalence of Hb Showa Yakushiji among β thalassemia carriers was 24.13%. Among Agris we reported only four β thalassemia mutations. This study has helped us in establishing an algorithm for identifying β thalassemia mutations among Agris that is cost effective and will be useful for offering prenatal diagnosis.
机译：作品简介:β地中海贫血的常见的遗传性血红蛋白疾患。普遍存在的β地中海贫血到3%不等各种种姓团体在印度发现的17%。血红蛋白Hb昭和药师的结果单核苷酸改变密码子110 (CTG→20)β球蛋白基因。观察到Hb昭和药师是礼物吗在四个农业家庭被称为产前诊断。流行的b地中海贫血突变阿勒社区。的β地中海贫血和Hb昭和药师阿勒社区。在农业主导周边地区进行了纳孟买。阿勒人无关的样本收集。是通过使用标准的血液程序描述紧随其后突变。Agris被发现是3.64%。昭和药师在β地中海贫血的航空公司24.13%。地中海贫血突变。在建立一个算法识别β地中海贫血突变Agris之一是成本有效的提供会有用的产前诊断。

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