Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17)Asn->Tyr]

被引：7

作者：

Lafferty, J

Ali, M

Matthew, K

Eng, B

Paterson, M

Waye, JS

机构：

[1] MCMASTER UNIV,SCH MED,DEPT PATHOL,HAMILTON,ON L8N 3Z5,CANADA

[2] AURORA MED CTR,AURORA,ON L4G 1M5,CANADA

[3] MCMASTER UNIV,MED CTR,PROV HEMOGLOBINOPATHY DNA DIAGNOST LAB,HAMILTON,ON L8N 3Z5,CANADA

来源：

HEMOGLOBIN | 1995年 / 19卷 / 06期

关键词：

D O I：

10.3109/03630269509005825

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A 73-year-old female of Dutch descent was referred for investigation of a high oxygen affinity hemoglobin variant. The beta-globin gene was amplified using the polymerase chain reaction. Direct nucleotide sequencing of the polymerase chain reaction amplified DNA revealed that she is heterozygous for a novel beta-globin gene mutation at codon 139, (A) under bar AT-->(T) under bar AT. The resulting hemoglobin variant has been designated Hb Aurora [beta 139 (H17) Asn-->Tyr].

引用

页码：335 / 341

页数：7

共 15 条

[1] ESTIMATION OF SMALL PERCENTAGES OF FOETAL HAEMOGLOBIN [J].