首次检测宿迁Hb [β42(CD1) Phe→Leu, HBB:c。[9t] [A]。

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2023-01-01 DOI:10.1080/03630269.2023.2167658

Wenjuan Wang, Zixuan Ding, Airui Jiang, Suning Chen, Huanju Han

引用次数: 0

摘要

我们在一名中国女性身上发现了β-珠蛋白基因的变异。HBB基因测序结果显示，在密码子42[β42(CD1)]处出现了Phe→Leu的替换，HBB:c。[9t]由于先证者的出生地，它被命名为Hb宿迁。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Fist Detection of Hb Suqian[β42(CD1) Phe→Leu, HBB:c.129T > A] in Han Chinese.

We have identified a variant on the β-globin gene in a Chinese female. Sequencing of the HBB gene revealed a Phe→Leu substitution at codon 42[β42(CD1) Phe→Leu, HBB:c.129T > A] which has been named Hb Suqian for where the proband was born.

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来源期刊

Hemoglobin 医学-生化与分子生物学

CiteScore

1.70

自引率

10.00%

发文量

审稿时长

3 months

期刊介绍： Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders