血红蛋白伏尔加型[β27（B9）丙氨酸→天冬氨酸]：通过对聚合酶链反应扩增的DNA进行Ava II酶切检测到一种新发突变。

Hb Volga [beta 27(B9)Ala-->Asp]: detection of a de novo mutation by Ava II digestion of PCR-amplified DNA.

作者信息

Plaseska D, Koceva S, Rasovic N, Efremov G D

机构信息

Research Center for New Technologies, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.

出版信息

Hemoglobin. 1993 Jun;17(3):209-15. doi: 10.3109/03630269308998895.

DOI:10.3109/03630269308998895

PMID:8330973

Abstract

Hb Volga was observed as a de novo mutation in a 5-year-old boy from Tuzla, Bosnia and Hercegovina, who exhibited severe Heinz body hemolytic anemia. The variant was detected and quantitated at 10.6% by a reversed phase high performance liquid chromatography (HPLC) procedure. Structural characterization was done by HPLC analysis. An easier approach for the detection of Hb Volga by Ava II digestion of polymerase chain reaction-amplified DNA is described.

摘要

在波斯尼亚和黑塞哥维那图兹拉一名患有严重亨氏小体溶血性贫血的5岁男孩中观察到血红蛋白伏尔加（Hb Volga）是一种新生突变。通过反相高效液相色谱（HPLC）程序检测到该变体并定量为10.6%。通过HPLC分析进行结构表征。本文描述了一种通过对聚合酶链反应扩增的DNA进行Ava II消化来检测Hb Volga的更简便方法。