Yatim Nur Fatihah Mohd, Rahim Masitah Abd, Menon Kavitha, Al-Hassan Faisal Muti, Ahmad Rahimah, Manocha Anita Bhajan, Saleem Mohamed, Yahaya Badrul Hisham
Regenerative Medicine Cluster, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Bertam, Kepala Batas, Penang 13200, Malaysia.
Healthy Lifestyle Cluster, Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia, Kepala Batas, Penang 13200, Malaysia.
Int J Mol Sci. 2014 May 19;15(5):8835-45. doi: 10.3390/ijms15058835.
Both α- and β-thalassaemia syndromes are public health problems in the multi-ethnic population of Malaysia. To molecularly characterise the α- and β-thalassaemia deletions and mutations among Malays from Penang, Gap-PCR and multiplexed amplification refractory mutation systems were used to study 13 α-thalassaemia determinants and 20 β-thalassaemia mutations in 28 and 40 unrelated Malays, respectively. Four α-thalassaemia deletions and mutations were demonstrated. --SEA deletion and αCSα accounted for more than 70% of the α-thalassaemia alleles. Out of the 20 β-thalassaemia alleles studied, nine different β-thalassaemia mutations were identified of which βE accounted for more than 40%. We concluded that the highest prevalence of (α- and β-thalassaemia alleles in the Malays from Penang are --SEA deletion and βE mutation, respectively.
α-地中海贫血综合征和β-地中海贫血综合征在马来西亚多民族人口中都是公共卫生问题。为了从分子层面表征槟城马来人中的α-地中海贫血和β-地中海贫血的缺失及突变情况，分别采用缺口聚合酶链反应（Gap-PCR）和多重扩增阻滞突变系统，对28名和40名无亲缘关系的马来人进行了13个α-地中海贫血决定簇和20个β-地中海贫血突变的研究。结果显示了4种α-地中海贫血的缺失及突变情况。--SEA缺失和αCSα占α-地中海贫血等位基因的70%以上。在所研究的20个β-地中海贫血等位基因中，鉴定出9种不同的β-地中海贫血突变，其中βE占40%以上。我们得出结论，槟城马来人中α-和β-地中海贫血等位基因的最高流行率分别是--SEA缺失和βE突变。
