Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 683-685, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-232232
ABSTRACT
<p><b>OBJECTIVE</b>To establish a simple, rapid, inexpensive and sensitive method for detecting hot region for mutations in exon 7 of PAH gene.</p><p><b>METHODS</b>High-resolution melting (HRM) technology was used to detect a c.728G>A mutation in exon 7 in 88 patients with classical type phenylketonuria. Suspected mutations were validated by direct DNA sequencing.</p><p><b>RESULTS</b>The results detected by HRM are in good agreement with the results obtained by direct sequencing.</p><p><b>CONCLUSION</b>HRM analysis is a simple, rapid, inexpensive and sensitive method for detecting hot mutational region in exon 7 of PAH gene.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenylalanine Hydroxylase
/
Phenylketonurias
/
DNA Mutational Analysis
/
Base Sequence
/
Exons
/
Nucleic Acid Amplification Techniques
/
Transition Temperature
/
Diagnosis
/
Genetics
/
Methods
Type of study:
Diagnostic study
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Type:
Article
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