Literature DB >> 2477064

Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val----Met, an unstable delta chain variant identified by sequence analysis of amplified DNA.

J F Codrington1, F Kutlar, H F Harris, J B Wilson, T A Stoming, T H Huisman.   

Abstract

Data are reported for an 85-year-old black make who had an HPFH condition on one chromosome and a suspected 'delta-thalassemia' on the other. Sequence analysis of amplified DNA of an appropriate segment of the delta-globin gene identified a GTG to ATG mutation for codon 98 and thus a Val----Met replacement in the delta chain. This abnormality was confirmed by hybridization of amplified DNA with 32P-labeled synthetic probes and by the amino-acid composition of the isolated tryptic peptide delta T-11. Thus, the 'delta-thalassemia' is caused by the presence of an Hb A2 variant that is considered to be unstable to a similar extent as is Hb Köln, its beta chain counterpart.

Entities:  

Mesh:

Substances:

Year:  1989        PMID: 2477064     DOI: 10.1016/0167-4781(89)90083-3

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN: 0006-3002


  1 in total

1.  First reported case of compound heterozygosity for HbA2-Yialousa (HBD: c.82 G>C) and HbA2-Wrens (HBD: c.295 G>A) in Oman.

Authors:  Shoaib Al Zadjali; Wafa Bashir; David Gravell; Arwa Z Al Riyami; Yasser Wali; Shahina Daar
Journal:  Int J Hematol       Date:  2013-08       Impact factor: 2.490

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.