Detection of Common Beta-thalassemia Mutations by Reverse Dot Blot Analysis

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Main Authors:	Nguyen, Thi Lan Anh, Doan, Huong Mai
Format:	Article
Language:	other
Published:	H. : ĐHQGHN 2018
Subjects:	Beta globin gene, beta thalassemia disease amplification refractory mutation system (PCR-ARMS)
Online Access:	http://repository.vnu.edu.vn/handle/VNU_123/61561
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Institution:	Vietnam National University, Hanoi
Language:	other

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spelling	oai:112.137.131.14:VNU_123-615612018-04-26T20:06:29Z Detection of Common Beta-thalassemia Mutations by Reverse Dot Blot Analysis Nguyen, Thi Lan Anh Doan, Huong Mai Beta globin gene, beta thalassemia disease beta thalassemia disease amplification refractory mutation system (PCR-ARMS) amplification refractory mutation system (PCR-ARMS) p. 1-10 Beta (β)-thalassemia is the most common genetic disease of anemia caused by mutations on beta globin gene. In Vietnam, there is a high frequency of β -thalassemia carriers with a prevalence ranging from 1.5 to 25.0 % in the different ethnic groups. The most common mutations are the nonsense in codon (CD) 17 (A>T), codon 26 (G>A) and the frameshift at codons 41/42 (-TTCT). The polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) is challenged by using a great number of primer sets for detecting normal and mutated alleles. Reverse dot-blot hybridization using oligonucleotide probes can simultaneously detect allelic specific mutations on a membrane. In this study, we designed oligonucleotide probes specific to the three most common mutations in CD17, CD26 and CD41/42, and used them to optimize hybridization conditions at 68 0C in 6xSSC hybridization buffer, 2XSSC washing buffer for detecting homozygous or hetezygous alleles of beta globin gene in fifteen individuals of 5 families. Our results were consistent with those detected by PCR-AMRS method, indicating that oligonucleotide probes created by this study was specific, and that the reverse dot-blot hybridization using these oligo probes was convenient for analysis of beta thalassemia disease inVietnam. 2018-03-30T03:27:21Z 2018-03-30T03:27:21Z 2016 Article 2588-1140 http://repository.vnu.edu.vn/handle/VNU_123/61561 other Vol 32;No 1S application/pdf H. : ĐHQGHN
institution	Vietnam National University, Hanoi
building	VNU Library & Information Center
country	Vietnam
collection	VNU Digital Repository
language	other
topic	Beta globin gene, beta thalassemia disease beta thalassemia disease amplification refractory mutation system (PCR-ARMS) amplification refractory mutation system (PCR-ARMS)
spellingShingle	Beta globin gene, beta thalassemia disease beta thalassemia disease amplification refractory mutation system (PCR-ARMS) amplification refractory mutation system (PCR-ARMS) Nguyen, Thi Lan Anh Doan, Huong Mai Detection of Common Beta-thalassemia Mutations by Reverse Dot Blot Analysis
description	p. 1-10
format	Article
author	Nguyen, Thi Lan Anh Doan, Huong Mai
author_facet	Nguyen, Thi Lan Anh Doan, Huong Mai
author_sort	Nguyen, Thi Lan Anh
title	Detection of Common Beta-thalassemia Mutations by Reverse Dot Blot Analysis
title_short	Detection of Common Beta-thalassemia Mutations by Reverse Dot Blot Analysis
title_full	Detection of Common Beta-thalassemia Mutations by Reverse Dot Blot Analysis
title_fullStr	Detection of Common Beta-thalassemia Mutations by Reverse Dot Blot Analysis
title_full_unstemmed	Detection of Common Beta-thalassemia Mutations by Reverse Dot Blot Analysis
title_sort	detection of common beta-thalassemia mutations by reverse dot blot analysis
publisher	H. : ĐHQGHN
publishDate	2018
url	http://repository.vnu.edu.vn/handle/VNU_123/61561
_version_	1680967812257939456

Detection of Common Beta-thalassemia Mutations by Reverse Dot Blot Analysis

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