伊朗东南部婚前俾路支夫妇中α-珠蛋白基因突变谱
Spectrum of alpha-globin gene mutations among premarital Baluch couples in southeastern Iran.
作者信息
Miri-Moghaddam Ebrahim, Nikravesh Abass, Gasemzadeh Negin, Badaksh Mahin, Rakhshi Nahid
机构信息
Genetics of Non-communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan-Iran ; Department of Genetics, Zahedan University of Medical Sciences, Zahedan-Iran.
Department of Molecular Sciences, Faculty of Medicine, North Khorasan University of Medical Sciences, Bojnurd-Iran ; Esfarayen Faculty of Medical Sciences, Esfarayen, Iran.
出版信息
Int J Hematol Oncol Stem Cell Res. 2015 Jul 1;9(3):138-42.
BACKGROUND
Alpha thalassemia (α-thal) is one of the most common hemoglobinopathies worldwide. The aim of this study was to investigate the spectrum of α-thal mutations among premarital Baluch couples in southeastern Iran.
SUBJECTS AND METHODS
We assessed 1215 individuals by multiplex gap polymerase chain reaction (gap-PCR) and amplification refractory mutation system (ARMS-PCR).
RESULTS
Of the 1215 participants with mean age of 23±5.7 years, 62.3% lived in urban areas, and the rate of consanguineous marriage was 68.1%. Five mutations were identified, the most frequent one was -α (3.7) (rightward) with a frequency of 76.5%, followed by α (-5 nt) (16.8%), α2/ Codon 19(-G) (4%), -α (4.2) (leftward)(2.4%), - -MED (0.3%) among mutated alleles of the α -globin gene. Conclusion : Knowing the alpha-genotype is helpful for genetic counseling, microcytic anemia discrimination and hemoglobinopathy prevention.
背景
α地中海贫血（α-thal）是全球最常见的血红蛋白病之一。本研究旨在调查伊朗东南部婚前俾路支夫妇中α-thal突变谱。
对象与方法
我们采用多重缺口聚合酶链反应（gap-PCR）和扩增阻滞突变系统（ARMS-PCR）对1215名个体进行了评估。
结果
1215名参与者的平均年龄为23±5.7岁，其中62.3%生活在城市地区，近亲结婚率为68.1%。共鉴定出5种突变，最常见的是-α（3.7）（向右），频率为76.5%，其次是α（-5 nt）（16.8%）、α2/密码子19（-G）（4%）、-α（4.2）（向左）（2.4%）、--MED（0.3%），均位于α-珠蛋白基因的突变等位基因中。结论：了解α基因型有助于遗传咨询、鉴别小细胞贫血和预防血红蛋白病。
Zotero 插件