一种新的高氧亲和力血红蛋白变体的鉴定：Hb奥罗拉[β139(H17)天冬酰胺→酪氨酸]
Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17) Asn-->Tyr].
作者信息
Lafferty J, Ali M, Matthew K, Eng B, Patterson M, Waye J S
机构信息
Regional Hemoglobinopathy Laboratory, St. Joseph's Hospital, Hamilton, Ontario, Canada.
出版信息
Hemoglobin. 1995;19(6):335-41. doi: 10.3109/03630269509005825.
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, AAT-->TAT. The resulting hemoglobin variant has been designated Hb Aurora [beta 139 (H17) Asn-->Tyr].
一名73岁的荷兰裔女性因高氧亲和力血红蛋白变异而被转诊接受检查。使用聚合酶链反应扩增β-珠蛋白基因。对聚合酶链反应扩增的DNA进行直接核苷酸测序显示，她在密码子139处存在一种新的β-珠蛋白基因突变，即AAT→TAT，呈杂合状态。由此产生的血红蛋白变异体被命名为Hb Aurora [β139 (H17) Asn→Tyr]。
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