Compound heterozygosity for beta(+)-thalassemia [-31 (A-->G)] and a new variant with low oxygen affinity, Hb Sagami [beta139(H17)Asn-->Thr].
Compound heterozygosity for beta(+)-thalassemia [-31 (A-->G)] and a new variant with low oxygen affinity, Hb Sagami [beta139(H17)Asn-->Thr].
复制标题
β( )-地中海贫血 [-31 (A-->G)] 的复合杂合性和具有低氧亲和力的新变体 Hb Sagami [β139(H17)Asn-->Thr]。
DOI：
10.3109/03630269909005708
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发表时间：
1999
期刊：
影响因子：
1
通讯作者：
M. Kikuchi
中科院分区：
文献类型：
--
作者：
A. Miyazaki;T. Nakanishi;M. Kishikawa;T. Nakagawa;A. Shimizu;A. Mawjood;K. Imai;Y. Aoki;M. Kikuchi
在一项糖尿病筛查试验中，通过高效液相色谱法（HPLC）测定Hb A1 c，意外发现了一种新的血红蛋白（Hb）变体，Hb Sagami [β139（H 17）Asn→Thr]（1）。通过电喷雾电离质谱法（ESI/MS）测定氨基酸取代，并通过自动蛋白质测序仪（1）确认。异常β链的含量约为正常β链的两倍，这是通过ESI/MS与完整珠蛋白混合物以及通过高分辨率离子交换柱色谱法（PolyCAT A; Poly LC，哥伦比亚，MD，USA）与Hb估计的。
A new hemoglobin (Hb) variant, Hb Sagami [β139(H 17)Asn→Thr] was accidentally found through the assay of Hb A1c by high performance liquid chromatography (HPLC) in a screening test for diabetes mellitus (1). The amino acid substitution was determined by electrospray ionization mass spectrometry (ESI/MS) and confirmed by an automatic protein sequencer (1). The content of the abnormal β chain was about twice that of normal β chain, which was estimated by ESI/MS with intact globin mixture, and by high-resolution ion exchange column chromatography (PolyCAT A; Poly LC, Columbia, MD, USA) with Hb.