Hb阿纳莫萨或α2(111)(G18)丙氨酸→缬氨酸β2（α2突变）以及Hb穆尔哈森或α2(123)(H6)丙氨酸→丝氨酸β2（α1突变）是通过扩增DNA测序检测到的两种沉默、稳定的变体。

Hb Anamosa or alpha 2(111)(G18)Ala-->Val beta 2 (alpha 2 mutation) and Hb Mulhacen or alpha 2(123)(H6)Ala-->Ser beta 2 (alpha 1 mutation) are two silent, stable variants detected by sequencing of amplified DNA.

作者信息

Kazanetz E G, Leonova J Y, Wilson J B, McMillan S K, Walbrecht M, de Pablos Gallego J M, Huisman T H

机构信息

Department of Biochemistry and Molecular Biology Medical College of Georgia, Augusta 30912-2100, USA.

出版信息

Hemoglobin. 1995 Jan-Mar;19(1-2):1-6. doi: 10.3109/03630269509069724.

DOI:10.3109/03630269509069724

PMID:7615398

Abstract

We have identified silent amino acid substitutions in two alpha chain variants present in families from Iowa, USA, and Granada, Spain. Both involve an alanine residue in the core peptide, namely Ala-->Val at position 111 (codon change in the alpha 2 gene; GCC->GTC; Hb Anamosa) and Ala-->Ser at position 123 (codon change in the alpha 1 gene; GCC-->TCC; Hb Mulhacen). The two variants are stable. Sequencing of the amplified alpha 2- and alpha 1-globin genes greatly facilitated the characterization of the two variants.

摘要

我们已在美国爱荷华州和西班牙格拉纳达的家族中发现的两种α链变体中鉴定出沉默氨基酸取代。两者均涉及核心肽中的丙氨酸残基，即在第111位发生丙氨酸→缬氨酸取代（α2基因中的密码子变化；GCC→GTC；Hb阿纳莫萨）以及在第123位发生丙氨酸→丝氨酸取代（α1基因中的密码子变化；GCC→TCC；Hb穆尔哈森）。这两种变体是稳定的。扩增的α2-和α1-珠蛋白基因的测序极大地促进了这两种变体的特征鉴定。