1 results match your criteria: "Sun Yet-Sen University Zhongshan School of Medicine[Affiliation]"
[Genotype of thalassemia genes and the polymorphism of β- globin gene in Cantonese].
Zhonghua Xue Ye Xue Za Zhi
July 2013
Department of Medical Genetics, Sun Yet-Sen University Zhongshan School of Medicine, Guangzhou 510080, China.
Article Synopsis
- The study aimed to analyze the genotype of α and β-globin in Cantonese people to enhance genetic diagnosis for thalassemia.
- Various methods like PCR and DHPLC were employed to diagnose thalassemia in 454 cases from Guangdong, revealing that 438 were affected, with a majority being α-thal cases.
- The findings highlighted dominant mutations in α-thal and specific genotypes for β-thal, alongside the discovery of new SNPs, establishing the effectiveness of combining DHPLC with gene sequencing in detecting thalassemia mutations.