Detection of common deletions and mutations causing α-thalassemia in Southeast Asians and Southern Chinese with denaturing high performance liquid chromatography / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 670-674, 2011.
Article
в Zh
| WPRIM
| ID: wpr-295557
Ответственная библиотека:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To establish a comprehensive and simple assay using denaturing high performance liquid chromatography (DHPLC) for the diagnosis of most common mutations and deletions of α-thalassemia gene in Southeast Asians and Southern Chinese.</p><p><b>METHODS</b>This assay has included a duplex polymerase chain reaction (PCR) followed by DHPLC analysis. An improved PCR was also performed followed by DHPLC analysis. With this assay, a blinded study of 160 samples was screened for three common mutations and three common deletions.</p><p><b>RESULTS</b>The duplex PCR-DHPLC combined with the improved PCR-DHPLC analysis has detected all mutations and the wild-type allele. The results were consistent with those by the original methods.</p><p><b>CONCLUSION</b>This molecular assay may be used for the diagnosis of α-thalassemia patients from this geographical region. The method is accurate, rapid, semi-automatic and cost-effective, which makes it suitable for large-scale screening.</p>
Полный текст:
1
База данных:
WPRIM
Основная тема:
DNA Mutational Analysis
/
Chromatography, High Pressure Liquid
/
Alpha-Thalassemia
/
Gene Order
/
Diagnosis
/
Alpha-Globins
/
Genetics
/
Genotype
/
Methods
Тип исследования:
Diagnostic_studies
Пределы темы:
Humans
Язык:
Zh
Журнал:
Chinese Journal of Medical Genetics
Год:
2011
Тип:
Article