Article
[Methodological study for detecting gene mutation of family with genotyping of compound heterogenicity of SEA alpha-thalassemia 1 and HbCS].
Zhongguo shi yan xue ye xue za zhi - 1 Jun 2010
Chen Jian, Luo Bi, Qi Zhu, Huo Pei-Dan, Zhang Quan-Sheng, Wang Hong
Abstract excerpt
This study was aimed to establish a method of PCR combination with PCR-RFLP for detecting the South-East Asian (SEA) deletion type alpha-thalassemia 1 and non-deletion mutation of Hb Constant Spring (CS), and to investigate the application value of this method. For the members of the families with alpha-thalassemia, SEA deletion mutation was detected by PCR, then the HbCS point mutation was screened by PCR-RFLP....
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