血红蛋白S/血红蛋白奥斯勒：一例具有3条β珠蛋白链的病例。DNA序列（AAT）证明血红蛋白奥斯勒是β145位酪氨酸突变为天冬酰胺。
Hemoglobin S/hemoglobin Osler: a case with 3 beta globin chains. DNA sequence (AAT) proves that Hb Osler is beta 145 Tyr-->Asn.
作者信息
Hutt P J, Donaldson M H, Khatri J, Fairbanks V F, Hoyer J D, Thibodeau S N, Moxness M S, McMorrow L E, Green M M, Jones R T
机构信息
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA.
出版信息
Am J Hematol. 1996 Aug;52(4):305-9. doi: 10.1002/(SICI)1096-8652(199608)52:4<305::AID-AJH10>3.0.CO;2-C.
A 13-year-old African-American female with erythrocytosis and three different beta globins on electrophoresis beta A, beta S, and beta Osler, raised the possibility that one chromosome 11 might contain a duplicated beta globin gene, since there are normally only 2 beta globin genes. DNA sequence analysis showed GTG at codon 6 in exon 1, corresponding to Hb S and AAT at codon 145 in exon 3, indicating a substitution of Asn for Tyr. Thus, Hb Osler undergoes spontaneous post-translational deamidation, beta 145 Asn-->beta 145 Asp. Unmodified Hb Osler (Asn) co-migrates with Hb A on electrophoresis and co-elutes with Hb A on HPLC; therefore it has not been identified previously. All previous studies have incorrectly identified the mutation as being beta 145 (HC 2) Tyr-->Asp.
一名13岁的非裔美国女性患有红细胞增多症，电泳显示有三种不同的β珠蛋白，即βA、βS和β奥斯勒，鉴于正常情况下只有两个β珠蛋白基因，这就增加了11号染色体上可能存在β珠蛋白基因重复的可能性。DNA序列分析显示，外显子1的密码子6处为GTG，对应于Hb S，外显子3的密码子145处为AAT，表明天冬酰胺取代了酪氨酸。因此，Hb奥斯勒会发生自发的翻译后脱酰胺作用，β145天冬酰胺→β145天冬氨酸。未修饰的Hb奥斯勒（天冬酰胺）在电泳上与Hb A共迁移，在高效液相色谱上与Hb A共洗脱；因此它以前未被识别。所有先前的研究都错误地将该突变鉴定为β145（HC 2）酪氨酸→天冬氨酸。
Zotero 插件