旁遮普邦北部中间型β地中海贫血患者中次要修饰因子的频率
Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab.
作者信息
Nasreen Fariha, Khalid Attika, Zafar Lubna, Ahmad Suhaib, Shaikh Asma
机构信息
Dr. Fariha Nasreen, FCPS (Heam) Wapda Hospital, Rawalpindi, Pakistan.
Dr. Attika Khalid, FCPS (Haem) Pathology Department, Foundation University Medical College and Hospital, Islamabad, Pakistan.
出版信息
Pak J Med Sci. 2023 Sep-Oct;39(5):1517-1520. doi: 10.12669/pjms.39.5.7376.
OBJECTIVE
The aim of this study was to determine frequency of secondary modifiers in non-transfusion dependent thalassemia.
METHODS
This descriptive cross sectional study was done at Fauji Foundation Hospital Islamabad. Seventy diagnosed patients of thalassemia intermedia were included. Deoxyribonucleic acid (DNA) was extracted using Chelex method. The Xmn-1 and BCL11A polymorphisms were analyzed by Amplification Refractory Mutation System (ARMS) and Restriction Fragment Length Polymorphism (RFLP) PCR. The PCR amplified products were run on Polyacrylamide Gel Electrophoresis (PAGE).
RESULTS
The Xmn-l polymorphism was seen in 26/70 (37.1%) and BCL11A polymorphism was seem in 50/70 (71.4%) of the patients.
CONCLUSION
BCL11A and Xmn-l polymorphisms are important secondary modifiers in patients with thalassaemia intermedia in Northern Punjab.
目的
本研究旨在确定非输血依赖型地中海贫血中次要修饰因子的频率。
方法
本描述性横断面研究在伊斯兰堡的福吉基金会医院进行。纳入了70例确诊的中间型地中海贫血患者。采用Chelex法提取脱氧核糖核酸（DNA）。通过扩增不应突变系统（ARMS）和限制性片段长度多态性（RFLP）PCR分析Xmn-1和BCL11A多态性。PCR扩增产物在聚丙烯酰胺凝胶电泳（PAGE）上进行电泳。
结果
26/70（37.1%）的患者存在Xmn-1多态性，50/70（71.4%）的患者存在BCL11A多态性。
结论
BCL11A和Xmn-1多态性是旁遮普邦北部中间型地中海贫血患者重要的次要修饰因子。
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