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 (Western Pacific)
| ID: wpr-232232
Responsible library:
WPRO
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
Health context:
SDG3 - Health and Well-Being
/
SDG3 - Target 3.4 Reduce premature mortality due to noncommunicable diseases
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SDG3 - Target 3.2 Reduce avoidable death in newborns and children under 5
Health problem:
Target 3.2: Reduce avoidable death in newborns and children under 5
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Endocrine System Diseases
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Neonatal Healthcare
Database:
WPRIM (Western Pacific)
Main subject:
Phenylalanine Hydroxylase
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Phenylketonurias
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DNA Mutational Analysis
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Base Sequence
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Exons
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Nucleic Acid Amplification Techniques
/
Transition Temperature
/
Diagnosis
/
Genetics
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Methods
Type of study:
Diagnostic study
Limits:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Document type:
Article
