Screening and gene analysis of β-thalassemia in Tujia people in Jiangkou county of Guizhou

  Objective   To study genet ic background of minorit ies and the distribution feature of gene mutations of β-thalassemia in Guizhou Jiangkou Tujia people.

  Methods   To sample from venous blood and to determine the HbFand HbA2 by the AM-electrophoresis to r iddle the heterozygotes of β-thalassemia, then the blood of heterozygotes were analyzed by the automatic blood cell analyzer.DNA was extracted from white blood cells withe the rountine method, then amplified and analysised by PCRand rev erse dot blot(RDB)hybridization.

  Results   There were 13 heterozygotes finding out from 485 ob jects, the incidence of the β-thalassemia was 2.68%, the types of majority mutation in this area were CD_41-42(TCTT)(9 cases 69.2%)、CD^{17 >} (A-T)(3 cases 23.1%)and β^E (1 case, 7.7%).

  Conclusion   The situation of Guizhou Tujia minority -thalassemia and its epidemilogy and genotypes haditsown character.These resear ches were significant to direct the local people smarriage, prenatal diagnosis, peoples quality improvement.