Multiplex amplification refractory mutation system (MARMS) for the detection of β-globin gene mutations among the transfusion-dependent β-thalassemia Malay patients in Kelantan, Northeast of Peninsular Malaysia

American Journal of Blood Research

Nurul Fatihah Azman¹  Rahimah Ahmad¹  Bin Alwi Zilfalil¹  Muhammad Farid Johan¹  Rosnah Bahar¹  Adil Hussein¹  Narazah Yusoff¹  Nik Khairuddin Nik Yussof¹  Sinari Salleh¹  Azizah Othman¹  Endom Ismail¹  Wan Zaidah Abdullah¹  Rozita Hassan¹  Rosline Hassan¹  Mohd Ismail Ibrahim¹  Surianti Sukeri¹  Sarina Sulong¹  Nor Sarwany Mohamad¹  Sarifah Hanafi¹  Ariffin Nasir¹  Surini Yusoff¹  Noor Diana Rashid¹  Badrul Hisyam Yahaya¹  Syahzuwan Hassan¹ 

关键词: MARMS-PCR;    β-globin gene;    thalassemia;    Malay;    mutation;   

DOI  :  

学科分类：血液学

来源: e-Century Publishing Corporation

【 摘 要 】

The aim of this study was to adapt MARMS with some modifications to detect beta mutation in our cohort of thalassemia patients. We focused only on transfusion-dependent thalassemia Malay patients, the predominant ethnic group (95%) in the Kelantanese population. Eight mutations were identified in 46 out of 48 (95.83%) beta thalassemia alleles. Most of the patients (54.2%) were compound heterozygous with co-inheritance Cd 26 (G>A). The frequencies of spectrum beta chain mutation among these patients are presented in Table 2. Among the transfusion dependent beta thalassemia Malay patients studied, 26 patients were found to be compound heterozygous and the main alleles were Cd 26 (G>A). Compound heterozygous mutation of Cd 26 (G>A) and IVS 1-5 (G>C) were 12 (46.2%), Cd 26 (G>A) and Cd 41/42 (TTCT) were 9 (34.6%), Cd 26 (G>A) and IVS 1-1 (G>C) were 2 (7.7%) respectively. Meanwhile the minority were made of a single compound heterozygous of Cd 26 (G>A) and Cd 71/72, Cd 26 (>A) and Cd 17 (A>T), Cd 26 (G>A) and -28 (G>A) respectively. Twenty out of forty six patients were shown to have homozygous of IVS 1-5 (G>C) were 2 (10.0%), Cd 26 (G>A) were 15 (75.0%), Cd 19 (A>G) were 1 (5.0%), and IVS 1-1 (G>T) were 2 (10.0%). The beta chain mutations among the Kelantanese Malays followed closely the distribution of beta chain mutations among the Thais and the Malays of the Southern Thailand. The G-C transition at position 5 of the IVS 1-5 mutation was predominant among the Malay patients. In conclusion, this method has successfully identified the mutation spectrum in our cohort of transfusion-dependent beta thalassemia patients, and this method is equally effective in screening for mutation among thalassemia patients.

【 授权许可】

Unknown