Detection of three common, deletional alpha-thalassemia determinants in Southern China by a single-tube multiplex polymerase chain reaction method.
Hemoglobin
; 28(1): 39-44, 2004 Feb.
Article
em En
| MEDLINE
| ID: mdl-15008263
ABSTRACT
alpha-Thalassemia (thal) is one of the most common inherited disorders in the world and in Southern China. Three large deletions of the alpha-globin gene, namely the -alpha3.7 and -alpha4.2 (single gene deletions), and --SEA (Southeast Asian double gene deletion), are the main alpha-thal abnormalities in Southern China. We have developed a reliable, single-tube multiplex polymerase chain reaction (m-PCR) assay for these three most frequently observed determinants in Southern China. By using this assay, we detected 40 alpha-thal patients from Guangdong, Guangxi Province, and analyzed 116 blood samples from the Li ethnic group of Hainan Province. To our surprise, the combined incidence of -alpha3.7 and -alpha4.2 was found to be as high as 38.0% among the Li people, and the -alpha4.2 genotype is more frequent than -alpha3.7 in the Li people. No SEA deletions were found in the Li samples.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia alfa
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Hemoglobin
Ano de publicação:
2004
Tipo de documento:
Article