The Study On Gene Mutations Of Two Inherited Blood Diseases In Yunnan Province

Glucose-6-phosphate dehydrogenase (G6PD) deficiency and beta thalassemia are two of the most common hereditary blood diseases with hemolytic anemia, but few molecular genetics researches on these diseases have been reported previously in Yunnan province, China. There are many minorities groups resident in Yunnan province, and which show the obvious genetic diversity. Yunnan is an area with more epidemic malaria as well. The studies on gene mutations of these two diseases are useful for studyingon the pathologic mechanism, the association between gene structure and gene function. It can offer further basic data for the diagnosis, treatment and prevention of theses diseases, and offer useful clue on the origin, migration and evolution history of the minorities groups. For these reasons, we investigated the gene mutations in patients with G6PD deficiency and patients with beta thalassemia in Yunnan.1. The studies on gene mutations in patients with G6PD deficiencyIn 95 cases patients with G6PD deficiency, six known G6PD gene mutations were detected by using the natural primers or mis-matched primers mediated polymerase chain reaction (PCR) followed by endonuclcasc digestion methods, and the amplification refractory mutation system (ARMS). The unknown mutations which within from exon2 to exonl2 of G6PD gene were screened by using polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) analysis. The feature and position of mutations were identified by using automatic DNA sequencing. In 95 patients, eleven gene variants were found in 84 cases (88.42%), they are G1388A(28.4%), G1376T(26.3%), C1311T(8.42%), C1024T(4.2%), G871A(1.0%), C592T(1.0%), G487A(11.5%), G392T(1.0%), A95G(3.2%), IVS-5 nt636or637T→del(4.2%) and IVS-11 nt93T— C(8.42%), and they present in patients as eleven alleles. C1311T mutation combines with IVS-11 nt 93T→C mutation in 8 cases. In one heterozygote, G487A combines with 1311T/93C...