云南省人群地中海贫血遗传多样性的研究.

Objective To investigate the genetic heterogeneity of thalassemia in the populations of Yunnan province. Methods From July 2009 to Octorber 2012, mutations of the α- or β-hemoglobin genes were tested in suspected thalassemia cases to investigate the spectrums of gene mutations. And the distribution of mutations in different region and minority were analysed. Results Four types of α-thalassemia mutations, --SEA （62.82%）, -α3.7 （19.66%）, αCS （12.39%）, and -α4.2 （5.13%） were identified. Seven common mutations were responsible for the β-thalassemia alleles, CD26 （32.00%）, CD17 （22.18%）, CD41-42 （18.91%）, IVS-Ⅱ -654 （16.18%）, -28 （5.09%）, CD71-72 （2.00%）, and CD27-28 （0.91%）. For β-thalassemia, CD41-42 was the most frequent mutation in southeast Yunnan and βE was the most frequent mutation in southwest Yunnan. Conclusions The most frequent mutation is βE for β-thalassemia, which is different from other regions in China. Similar to the results obtained in other regions in China previously reported, SEA mutation is the most frequent for α-thalassemia. Our data provide valuable information on the control of thalassemia in the population with ethnic and geographical background in Yunnan Province. [ABSTRACT FROM AUTHOR]