Gene Analysis Of 15 β-thalassemia Lineages At Chengdu And It's Neighborhood By Using ARMS

Objective: To realize the distributing rate of the popular -tnalassemia mutate gene of the population at Chengdu and it's neighborhood, and provide a feasible technique for inheritance consulting and prenatal diagnosis through gene analysis of 15 -tnalassemia lineages by ARMS. Method: Use ARMS to detect the four most popular -thal mutate gene:CD17 (A--T) ,CD41-42 (-4bp) ,654-2(C- T) and CD71-72(+A) in 15 -thalassemia patients and then- parents. Results: Of 45 cases, 41 cases have detected positive for -thai mutationwhich mentioned above.The diagnosis rate reach 91%. The diagnosis rate of the four mutations are in turn: CDn (A-T) 48.9%. CD41-42 (-4bp)46.7%, 654-2(C-T)8.9%, and CD71-72(+A)0%, about 15.5% cases have not detected these four known mutations ,or including the unknown mutations. Of 14 -thal majors, 35.7% have double heterozygosity for CDn/ CD4M2 mutation, 21.4% have homozygosity for CD41-42 mutation, 14.3% have homozygosity for CDn mutation, 7.1% have double heterozygosity for CDn/ 654-2 mutation and the same for CD41-42/ 654-2 mutation, 7.1% have unknown mutation, andthe same have double heterozygosity for CDn and an unknown mutation. Only one case is β -thai intermedia and she is a heterozygote of CDn and an unknown mutation. A part of cases which had been detected by using PCR/ASO technique or RDB technique have the same ARMS detecting results.Conclusion: ARMS is a simple, reliable and economic diagnosis technique for detecting popular β -thai locus mutation. It can be used to guidance, the inheritance consulting of the population at risk and filtrate the heterozygote of the β -thai; The most popular β -thai gene mutation in population of Chengdu and it's neighborhood is CD17(A-T) and CD41-42(-4bp),the distributing rate of these two is almost the same.