Genotype distribution and characteristics of beta-thalassemia of Miao, Shui and Yaonationality

  Objective   In order to get the information about genotypes of β-thalassemia were performed in three minorities of Guizhou province, an a large-scale screening and gene analysis of β-thalassemia in Miao, Shui and Yao people.

  Methods   Red cell shocking one tube method was used to detect the erythrocyte brittleness.The HbF and HbA₂ was determined by the AM-electrophoresis to detect the heterogotes of β-thalassemia.DNA extracted from white bood cells with the rountine method, then amplified and analysed by PCR and RDB(reverse dot blot)hybridization.

  Results   Among the 2 566 samples, 134 heterozygotes were found out, the incidence of the beta-thalassemia was 5.22%, the incidences in Miao, Shui and Yao people was 4.72%, 6.06%, 4.45% respectively.By gene analysis the types of majority mutation found in this area were CD_41-42(-TCTT)and CD₁₇(A→T), the dection rate in the 3 minorities were 88.1%, 60.6%, 23%.

  Conclusion   Betathalassemia had a high incidence in the minority of Guizhou, its genotypes had a marked nationality trait, the result also clewed that there were likely to exist unknown or infrequence mutation type in Guizhou minority.