一个中国家庭中的新型β地中海贫血突变：IVS-II-203-205（TCT>CC）（HBB：c.315+203TCT>CC）
A Novel β-Thalassemia Mutation in a Chinese family: IVS-II-203-205 (TCT>CC) (HBB: c.315+203TCT>CC).
作者信息
Chen Jun-Kun, Xin Xiao-Qin, Huang Jun-Gao
机构信息
a Department of Medical Genetics , Ganzhou Maternal and Child Health Hospital , Ganzhou , Jiangxi Province , People's Republic of China.
b Department of Clinical Laboratory , Ganzhou People's Hospital , Ganzhou , Jiangxi Province , People's Republic of China.
出版信息
Hemoglobin. 2018 May;42(3):159-160. doi: 10.1080/03630269.2018.1499524. Epub 2018 Sep 25.
β-Thalassemia (β-thal) is one of the most common inherited disorders in southern China. More than 300 β-globin gene mutations around the world have been reported in the HbVar database. In this study, a novel mutation in a 30-year-old Chinese woman [IVS-II-203-205 (TCT>CC), HBB: c.315+203TCT>CC] was first found by direct sequencing. Subsequently, investigation of her parents' genetic codes was completed, and the results showed that her father also carried this mutation. Based on the features observed in clinical practice, this novel mutation was regarded as a mild phenotype of β-thal.
β地中海贫血（β-thal）是中国南方最常见的遗传性疾病之一。HbVar数据库报告了全球300多种β珠蛋白基因突变。在本研究中，通过直接测序首次在一名30岁中国女性中发现了一种新突变[IVS-II-203-205（TCT>CC），HBB：c.315+203TCT>CC]。随后，完成了对其父母遗传密码的调查，结果显示她的父亲也携带这种突变。基于临床实践中观察到的特征，这种新突变被认为是β地中海贫血的一种轻度表型。
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