三种新型胎儿血红蛋白（Hb F）变异体的鉴定：Hb F - 海沃德[Gγ1(NA1)甘氨酸→天冬氨酸，GGT>GAT]、Hb F - 乔里 - I[AγT16(A13)甘氨酸→天冬氨酸，GGC>GAC]和Hb F - 乔里 - II[AγI29(B11)甘氨酸→谷氨酸，GGA>GAA]。
Identification of three novel Hb F variants: Hb F-Hayward [Gγ1(NA1)Gly→Asp, GGT>GAT], Hb F-Chori-I [AγT16(A13)Gly→Asp, GGC>GAC] and Hb F-Chori-II [AγI29(B11)Gly→Glu, GGA>GAA].
作者信息
Cui Jialing, Baysdorfer Christoph, Azimi Mahin, Vichinsky Elliott P, Hoppe Carolyn C
机构信息
Hemoglobinopathy Reference Laboratory, Children's Hospital & Research Center Oakland, 747 52nd Street, Oakland, CA 94609, USA.
出版信息
Hemoglobin. 2012;36(3):305-9. doi: 10.3109/03630269.2012.659304. Epub 2012 Mar 2.
Three new γ-globin chain mutations were identified in four newborn samples referred to the Hemoglobinopathy Reference Laboratory at the Children's Hospital & Research Center Oakland, Oakland, CA, USA, for diagnostic testing. The variants were characterized by sequencing of amplified γ-globin genes. These three novel variants have been named Hb F-Hayward [(G)γ1(NA1)Gly→Asp, GGT>GAT], Hb F-Chori-I [(A)γ(T)16(A13)Gly→Asp, GGC>GAC] and Hb F-Chori-II [(A)γ(I)29(B11)Gly→Glu, GGA>GAA], respectively. No functional studies could be performed.
在美国加利福尼亚州奥克兰儿童医院及研究中心的血红蛋白病参考实验室，对4份用于诊断检测的新生儿样本进行检测时，发现了3种新的γ-珠蛋白链突变。通过对扩增的γ-珠蛋白基因进行测序来鉴定这些变异体。这3种新变异体分别被命名为Hb F-海沃德[（G）γ1（NA1）甘氨酸→天冬氨酸，GGT>GAT]、Hb F-乔里-I[（A）γ（T）16（A13）甘氨酸→天冬氨酸，GGC>GAC]和Hb F-乔里-II[（A）γ（I）29（B11）甘氨酸→谷氨酸，GGA>GAA]。无法进行功能研究。
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