[Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Han and Li nationalities in Hainan, China and identification of a new mutation in human G6PD gene].

@article{Cai2001MolecularCO,
  title={[Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Han and Li nationalities in Hainan, China and identification of a new mutation in human G6PD gene].},
  author={Wangwei Cai and Stefonia Filosa and Giuseppe Martini and Yi Zhou and Dan Zhou and Ling-jun Cai and Ying Kuang},
  journal={Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics},
  year={2001},
  volume={18 2},
  pages={105-9}
}
OBJECTIVE To elucidate the molecular basis of G6PD deficiency in the Han and Li nationalities in Hainan, China. METHODS Polymerase chain reaction and restriction enzyme digestion were used to screen the mutations 1388G-->A, 1360C-->T, 1024C-->T, 592C-->T, 517T-->C, 493A-->G, 487G-->A, 392G-->T and 95A-->G. Single strand conformation polymorphism analysis was used to screen the other mutations followed by DNA sequencing to characterize the mutations of the samples with abnormal SSCP bands… CONTINUE READING