HB Port Huron [α56(E5)LYS→ÅG]: A NewαChain Variant
作者:
ZwerdlingT.,
WilliamsS.,
NasrS. A.,
RucknagelD. L.,
期刊:
Hemoglobin
(Taylor Available online 1991)
卷期:
Volume 15,
issue 5
页码: 381-391
ISSN:0363-0269
年代: 1991
DOI:10.3109/03630269108998858
出版商: Taylor&Francis
数据来源: Taylor
摘要:
We have determined the structural abnormality of a putative Hb E detected in an African-American family with no apparent Asian ancestry. The tryptic peptide map performed by high performance liquid chromatography showed that the electrophoretic variant was indeed Hb E [β26 (B8)Glu→Lys]. In addition, the tryptic map showed an abnormal peptide adjacent to theαT-6 peptide. The amino acid analysis and confirmatory restriction analysis of the DNA showed that a second mutation was also present, characterized by a substitution of arginine for lysine at residue 56 of the a chain. The variant is clinically silent and has been named Hb Port Huron for the city in Michigan where the family resides.
点击下载:
PDF (599KB)
返 回