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[The types and distributive features of gene mutation on beta-thalassemia in three districts in northwest China]
1Research Institute of Clinical Medicine, Urumqi General Hospital of Lanzhou Command PLA, Urumqi, Xinjiang, 830000 P. R. China.
Objective:
To sum up the results of gene analyses on beta-Thalassemia in three districts in northwest China and discuss the types and distributive features of the mutation.
Methods:
Polymerase china reaction in combination with dot-blot hybridization of allele-specific oligonucleutide probes(PCR-ASO).
Results:
In the gene analysis carried out in 85 probands with beta-Thalassemia, twelve types of gene mutation were identified from five nationalities. CD8(-AA), CDs8-9(+G), CDs27-28(+C) heterozygote and [-28(A-->uG). CD17(A-->uT)/N] double heterozygote were firstly assayed in these districts besides the common types in Chinese, of which, [-28(A-->uG). CD17(A-->uT)/N] as double gene mutation in the same chromosome is rare.
Conclusion:
There are significant differences in the distribution and nationality features of gene mutation types for beta-Thalassemia in the three districts, so the three districts as a whole is an area with special distributive features of the disease.