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

p. 398-403

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Main Authors: Nguyen, Thu Trang, Le, Thi Thu Ha, Nguyen, Thuy Ngan, Trieu, Tien Sang, Pham, Anh Thuy Duong, Vo, Thi Thuong Lan
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出版: H. : ĐHQGHN 2018
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在線閱讀:http://repository.vnu.edu.vn/handle/VNU_123/61560
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機構: Vietnam National University, Hanoi
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spelling oai:112.137.131.14:VNU_123-615602018-04-26T20:06:12Z Detection of Common Beta-thalassemia Mutations by Reverse Dot Blot Analysis Nguyen, Thu Trang Le, Thi Thu Ha Nguyen, Thuy Ngan Trieu, Tien Sang Pham, Anh Thuy Duong Vo, Thi Thuong Lan Beta globin gene beta thalassemia disease, polymerase chain reaction-amplification refractory mutation system (PCR-ARMS), reverse dot-blot analysis p. 398-403 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. 2018-03-30T03:17:21Z 2018-03-30T03:17:21Z 2016 Article 2588-1140. http://repository.vnu.edu.vn/handle/VNU_123/61560 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,
polymerase chain reaction-amplification refractory mutation system (PCR-ARMS),
reverse dot-blot analysis
spellingShingle Beta globin gene
beta thalassemia disease,
polymerase chain reaction-amplification refractory mutation system (PCR-ARMS),
reverse dot-blot analysis
Nguyen, Thu Trang
Le, Thi Thu Ha
Nguyen, Thuy Ngan
Trieu, Tien Sang
Pham, Anh Thuy Duong
Vo, Thi Thuong Lan
Detection of Common Beta-thalassemia Mutations by Reverse Dot Blot Analysis
description p. 398-403
format Article
author Nguyen, Thu Trang
Le, Thi Thu Ha
Nguyen, Thuy Ngan
Trieu, Tien Sang
Pham, Anh Thuy Duong
Vo, Thi Thuong Lan
author_facet Nguyen, Thu Trang
Le, Thi Thu Ha
Nguyen, Thuy Ngan
Trieu, Tien Sang
Pham, Anh Thuy Duong
Vo, Thi Thuong Lan
author_sort Nguyen, Thu Trang
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_123/61560
_version_ 1680965612008898560