2号密码子处的新型移码突变（-T）（：c.9delT）及来自阿塞拜疆的三种新型β-珠蛋白突变的首次报道。
A Novel Frameshift Mutation at Codon 2 (-T) (: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan.
作者信息
Bayramov Bayram, Aliyeva Gunay, Asadov Chingiz, Mammadova Tahira, Karimova Nigar, Eynullazadeh Khagani, Gafarova Surmaya, Akbarov Seymur, Farhadova Sabina, Safarzadeh Zumrud, Abbasov Mehraj
机构信息
Genetic Resources Institute, Azerbaijan National Academy of Sciences, Baku, Azerbaijan.
Department of Hemopoietic Pathologies, Institute of Hematology and Blood Transfusion, Baku, Azerbaijan.
出版信息
Hemoglobin. 2019 Jul-Sep;43(4-5):280-282. doi: 10.1080/03630269.2019.1657886. Epub 2019 Sep 3.
We identified a novel mutation of β-thalassemia (β-thal) in a heterozygous carrier from Azerbaijan. Phenotypical data and molecular mechanisms of codon 2 (-T) (: c.9delT) was relevant to β-thal. Additionally, we here report two new mutations on the gene, not observed previously, in the local population as well as a non causative promoter mutation -198 (A>G) (: c.-248A>G).
我们在一名来自阿塞拜疆的杂合子携带者中鉴定出一种新型β地中海贫血（β-地贫）突变。密码子2（-T）（：c.9delT）的表型数据和分子机制与β-地贫相关。此外，我们在此报告了该基因上两个此前在当地人群中未观察到的新突变，以及一个非致病性启动子突变-198（A>G）（：c.-248A>G）。
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