Detection of Hb E mutation (β26, GAG-AAG, Glu-Lys) using allelic discrimination analysis

Autor:	A. Sangnoi, S. Sangkitporn, S. K. Sangkitporn, S. Duangruang
Rok vydání:	2009
Předmět:	Sequence analysis Biochemistry (medical) Clinical Biochemistry Hematology General Medicine Biology Molecular biology law.invention law Polymorphism (computer science) Hemoglobin E Mutation (genetic algorithm) Nucleic acid Hemoglobin Allele Polymerase chain reaction
Zdroj:	International Journal of Laboratory Hematology. 31:74-80
ISSN:	1751-553X 1751-5521
DOI:	10.1111/j.1751-553x.2007.01006.x
Popis:	Summary A method for detection of hemoglobin (Hb) E mutation was developed based on allelic discrimination analysis. Two probes labeled with different fluorescent reporter dyes were designed to specifically detect variation of a single nucleic acid polymorphism (SNP) site in the target template sequence. Polymerase chain reaction (PCR) products of normal allele and mutant allele were detected directly by analyzing fluorescent signal of each probe. This method was validated in term of accuracy (by comparing with sequence analysis) and reproducibility. The % CV between run precision was 5.16–8.86%. The narrow scatter of the results confirmed the reproducibility of the assay. This technique is a rapid, reliable and cost-effective method to differentiate Hb E homozygosity from β0-thalassemia/Hb E in populations with a high frequency of β-thalassemia and Hb E.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::3e006e1f9275f38ba4f913e020bba07b https://doi.org/10.1111/j.1751-553x.2007.01006.x Zobrazit plný text záznamu Plný text ve formátu PDF