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Two different mutations in codon 97 of the β‐globin gene cause Hb Malmö in Sweden

 

作者: Britta Landin,   Stig Berglund,   Kristina Wallman,  

 

期刊: American Journal of Hematology  （WILEY Available online 1996）
卷期: Volume 51, issue 1  

页码: 32-36

 

ISSN:0361-8609

 

年代: 1996

 

DOI:10.1002/(SICI)1096-8652(199601)51:1<32::AID-AJH6>3.0.CO;2-8

 

出版商: Wiley Subscription Services, Inc., A Wiley Company

 

关键词: hemoglobins;abnormal;beta‐globin;point mutation

 

数据来源: WILEY

 

摘要:

AbstractAn abnormal hemoglobin with increased oxygen affinity, Hb Malmö [α2β297(FG4)His→Gln], was found to cause erythrocytosis in two apparently unrelated Swedish families. Direct nucleotide sequencing of amplified DNA demonstrated a CAC→CAA substitution in one family and a CAC→CAG substitution in the other. Both mutations resulted in a His→Gln substitution in codon 97. This finding prompted us to examine the possible point mutations underlying the different hemoglobin variants reported in the literature. © 1996 Wile

 

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