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与619 bp β(°)地中海贫血缺失相关的非缺失型遗传性胎儿血红蛋白持续存在(HPFH)情况的检测。

Detection of non-deletional type of hereditary persistence of fetal hemoglobin (HPFH) condition associated with 619 bp β(°)-thalassemia deletion.

作者信息

Husain S M, Anandaraj M P

机构信息

Institute of Genetics, Osmania University, Begumpet, 500 016 Hyderabad, AP India.

出版信息

Indian J Clin Biochem. 1997 Jul;12(2):142-5. doi: 10.1007/BF02873679.

DOI:10.1007/BF02873679
PMID:23100882
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3453670/
Abstract

DNA samples from a family (parents and a son) with hereditary persistence of fetal hemoglobin (HPFH) condition were subjected to amplification of a 1.214 kbp DNA fragment from β-globin gene using polymerase chain reaction (PCR). The aim of this study was to identify the type of HPFH i.e. deletional or non deletional. Non deletional type of HPFH was identified in two samples and moreover, these samples were found to be associated with 619bp β(°)-thalassemia deletion. This is the first report on the association of non deletional HPFH with 619bp β(°)-thalassemia deletion.

摘要

对一个患有遗传性胎儿血红蛋白持续存在症(HPFH)的家庭(父母和一个儿子)的DNA样本,使用聚合酶链反应(PCR)对β-珠蛋白基因的1.214 kbp DNA片段进行扩增。本研究的目的是确定HPFH的类型,即缺失型或非缺失型。在两个样本中鉴定出非缺失型HPFH,此外,这些样本被发现与619bpβ(°)-地中海贫血缺失相关。这是关于非缺失型HPFH与619bpβ(°)-地中海贫血缺失关联的首次报道。

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本文引用的文献

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A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex.一种与β-珠蛋白基因复合体不连锁的非缺失型胎儿血红蛋白(HPFH)遗传性持续决定因素。
Prog Clin Biol Res. 1989;316B:97-111.
10
DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin.在非缺失型胎儿血红蛋白遗传性持续存在中调控人类珠蛋白基因转录的DNA序列
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