Hassan Syahzuwan, Ahmad Rahimah, Zakaria Zubaidah, Zulkafli Zefarina, Abdullah Wan Zaidah
Hematology Unit, Cancer Research Centre, Institute for Medical Research, Jalan Pahang, 50588 Kuala Lumpur, Malaysia.
Malays J Med Sci. 2013 Jan;20(1):13-20.
β-thalassaemia is one of the most common single-gene disorders worldwide. Each ethnic population has its own common mutations, accounting for the majority of cases, with a small number of mutations for the rarer alleles. Due to the heterogeneity of β-thalassaemia and the multi-ethnicity of Malaysians, molecular diagnostics may be expensive and time consuming.
A simple polymerase chain reaction (PCR) approach involving a multiplex amplification refractory mutation system (MARMS) and one amplification refractory mutation system (ARMS), consisting of 20 β-globin gene mutations, were designed and employed to investigate β-thalassaemia patients and carriers.
Out of 169 carriers tested with the MARMS, Cd 41/42 (-TTCT), Cd 26 (A-G) HbE, IVS 1-1 (G-T), and IVS 1-5 (G-C) were the most common mutations, accounting for 78.1%. Among the Malays, Cd 26 (A-G) HbE, Cd 41/42 (-TTCT), IVS 1-1 (G-T), and IVS 1-5 (G-C) were the most common mutations, accounting for 81.4%, whereas Cd 41/42 (-TTCT) and IVS 2-654 (C-T) were most common among the Chinese (79.1%).
We propose the use of this cheap, easy to interpret, and simple system for the molecular diagnostics of β-thalassaemia among Malaysians at the Institute for Medical Research (IMR).
β地中海贫血是全球最常见的单基因疾病之一。每个种族群体都有其自身常见的突变，这些突变占大多数病例，只有少数突变为罕见等位基因。由于β地中海贫血的异质性以及马来西亚人的多民族性，分子诊断可能既昂贵又耗时。
设计并采用了一种简单的聚合酶链反应（PCR）方法，该方法涉及多重扩增不应性突变系统（MARMS）和一个扩增不应性突变系统（ARMS），由20种β珠蛋白基因突变组成，用于调查β地中海贫血患者和携带者。
在用MARMS检测的169名携带者中，Cd 41/42（-TTCT）、Cd 26（A-G）HbE、IVS 1-1（G-T）和IVS 1-5（G-C）是最常见的突变，占78.1%。在马来人中，Cd 26（A-G）HbE、Cd 41/42（-TTCT）、IVS 1-1（G-T）和IVS 1-5（G-C）是最常见的突变，占81.4%，而在中国人群中Cd 41/42（-TTCT）和IVS 2-654（C-T）最常见（79.1%）。
我们建议在医学研究所（IMR）使用这种廉价、易于解读且简单的系统对马来西亚人中的β地中海贫血进行分子诊断。
