首页   按字顺浏览 期刊浏览 卷期浏览 Hb Evans orα262(E11)Val→Metβ2; an Unstable Hemoglobin Causing a Mild Hemolytic Anemia
Hb Evans orα262(E11)Val→Metβ2; an Unstable Hemoglobin Causing a Mild Hemolytic Anemia

 

作者: WilsonJ. B.,   WebberB. B.,   KutlarA.,   ReeseA. L.,   McKieV. C.,   LutcherC. L.,   FeliceA. E.,   HuismanT. H. J.,  

 

期刊: Hemoglobin  (Taylor Available online 1989)
卷期: Volume 13, issue 6  

页码: 557-566

 

ISSN:0363-0269

 

年代: 1989

 

DOI:10.3109/03630268908993106

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

Structural analysis o f theαchain of the hemoglobin from a Caucasian female with a mild hemolytic anemia showed the presence of a variant with a Val→Met substitution at positionα62. The valine at this position forms one o f the contacts with heme and its replacement by methionine will likely decrease heme binding and cause adistortion of the heme crevice and a decreased stability of the abnormal protein. Dot-blot analysis of amplified DNA with32P-labeled synthetic oligonucleotide probes confirmed the suspected G→A mutation in the first position of codon 62, and also located the mutation in theα2-globin gene. The mutation was found in the proposita and one of her daughters but was most probably absent in her parents.

 

点击下载:  PDF (568KB)



返 回