Detection of rare mutation of β-thalassemia by direct sequence analysis of the PCR products

单越新; 张基增; 徐钤

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Detection of rare mutation of β-thalassemia by direct sequence analysis of the PCR products

Updated：2026-03-12

- Detection of rare mutation of β-thalassemia by direct sequence analysis of the PCR products
- Military Medical Research Issue 3, Pages: 235-241(1993)
- Affiliations：
  
  1. Department of Biochemistry First Military Medical University
  2. ,Guangzhou,510515
- Author bio：
- Funds：
- DOI：
  CLC：
- Published：1993
- Accepted：
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[1]单越新,张基增,徐钤.Detection of rare mutation of β-thalassemia by direct sequence analysis of the PCR products[J].Journal of Medical Colleges of PLA,1993(03):235-241.
DOI：

[1]单越新,张基增,徐钤.Detection of rare mutation of β-thalassemia by direct sequence analysis of the PCR products[J].Journal of Medical Colleges of PLA,1993(03):235-241. DOI：

摘要

Abstract

<正> A technique of direct sequence analysis of β-globin gene with the products of amplifi-cation by polymerase chain reaction （PCR） was reported and a case of β-thalassemia with therare mutation in Chinese

‘codon 14/15 （+G）’ was detected by this method.After the se-quence of the mutation site was determined

an analysis of the restriction map of the gene anddot blot hybridization with radioactive allele specific oligonucleotide probe was designed to con-firm the result of DNA sequencing.

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