Haghi Mehdi, Khorshidi Shohre, Hosseinpour Feizi Mohammad Ali, Pouladi Nasser, Hosseinpour Feizi Abbas A
Department of Biology-Genetics, Science Faculty, Tabriz University, Tabriz, Iran.
Hemoglobin. 2009;33(2):109-14. doi: 10.1080/03630260902862020.
The aim of this study was to investigate the prevalence and spectrum of beta-thalassemia (beta-thal) mutations in the population of Sunni Muslim Kurds in western Iran and to set up a prenatal diagnostic laboratory. Sixty unrelated Kurdish beta-thal patients identified in hematology clinics from different cities were studied. The mutations in 120 chromosomes were studied by polymerase chain reaction-amplification refractory mutation system and direct sequencing methods. We found fifteen beta-thal mutations, and IVS-II-1 (G>A) was the most frequent, comprising 35% of all mutations. Other common mutations were frameshift codons 8/9 (+G) 15.7%, IVS-I-1 (G>A) 8%, FSC 5 (-CT) 6.7%, FSC 8 (-AA) 6.7%, and IVS-I-110 (G>A) 6%. This is the first comprehensive study in this region and could provide a reference for prenatal testing and genetic counseling in this population.
本研究的目的是调查伊朗西部逊尼派库尔德人群中β地中海贫血（β-地贫）突变的患病率和谱系，并建立一个产前诊断实验室。对在不同城市血液学诊所确诊的60例无亲缘关系的库尔德β-地贫患者进行了研究。采用聚合酶链反应-扩增阻滞突变系统和直接测序方法对120条染色体上的突变进行了研究。我们发现了15种β-地贫突变，其中IVS-II-1（G>A）最为常见，占所有突变的35%。其他常见突变包括移码密码子8/9（+G）15.7%、IVS-I-1（G>A）8%、FSC 5（-CT）6.7%、FSC 8（-AA）6.7%和IVS-I-110（G>A）6%。这是该地区的首次综合研究，可为该人群的产前检测和遗传咨询提供参考。
