Establishment of an allele-specific PCR method for direct screening of CYP21A2 gene mutation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 479-482, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-291748
ABSTRACT
<p><b>OBJECTIVE</b>To establish an allele-specific PCR method for detect screening of CYP21A2 gene mutation.</p><p><b>METHODS</b>Allele-specific PCR primers and analogy primers were designed based on the sequence alignment of CYP21A2 and CYP21AP genes. Genomic DNA was extracted from blood specimens of 4 patients with 21-hydroxylase deficiency and 5 healthy controls and respectively amplified with allele-specific PCR primers and analogy primers and sequenced.</p><p><b>RESULTS</b>Mutations of CYP21A2 including IVS2-13A/C>G, Arg356Trp and Arg149Pro were found with the established method in all of the 4 patients but not in the healthy controls. When detected with the analogy primers set, IVS2-13A/C>G and Arg356Trp were observed in both patients and healthy controls.</p><p><b>CONCLUSION</b>The allele-specific PCR-based method is a simple, effective and reliable method for the detection of CYP21A2 gene mutation.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Steroid 21-Hydroxylase
/
Polymerase Chain Reaction
/
Adrenal Hyperplasia, Congenital
/
DNA Primers
/
Alleles
/
Genetics
/
Methods
Type of study:
Diagnostic study
/
Screening study
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article
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