Characterization of IVS-110,IVS-6 and Codon 39beta-thalassemia mutations using amplification refractory mutation system (ARMS) technique in Bisha, Saudia Arabia

Mediterranean Journal of Hematology and Infectious Diseases

Khaled Ismail Ghaleb¹ 

[1] Assistant professor of Immunology-King Khalid University-Faculty of Applied Medical Science -Saudia Arabia;

关键词: Thalassemia;    ARMS;    Molecular;    mutations;    primers;    pecific amplifications;   

DOI  :  

来源: DOAJ

【 摘 要 】

The current study aim to characterized the thalassemia mutations in Bisha,Saudia rabia using amplification refractory mutation system(ARMS) in detection of the IVSI-110, IVSI-6 and codon 39 mutations. The study comprised of 50 cases from King Abdullah hospital, 20 females and 30 males and the age between 3 -25 years. The result revealed that IVS110 were7 cases (14%) homozygous and 15 cases (30%) heterozygous, IVSI-6 were 6 cases(12%) homozygous and 16 cases(32%) heterozygous , finally the codon 39 mutations were 2 cases(4%) homozygous and 12 cases(24%) heterozygous. The conclusion is the high incidence of mutations were in IVSI-110 were 7% and the low incidence were codon 39 for beta thalassemia in Bisha, Saudia Arabia by using ARMS technique .

【 授权许可】

Unknown