Analysis of PHEX gene mutation in a hypophosphatasia pedigree / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 582-584, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-237202
ABSTRACT
<p><b>OBJECTIVE</b>To screen potential mutations of PHEX gene in a family featuring hypophosphatemic rickets in order to confirm the molecular diagnosis and pathogenetic mechanism.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral venous blood samples. DNA sequence of PHEX gene was derived from UCSC database, and primers for its coding region were designed with Primer premier 5.0. Potential mutations were detected with PCR amplification and DNA sequence analysis.</p><p><b>RESUTLS</b>A mutation was identified in intron 6 of the PHEX gene in the proband and his mother.</p><p><b>CONCLUSION</b>The c.732+1G>T mutation underlies the hypophosphatemic rickets in this family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Molecular Sequence Data
/
Base Sequence
/
Introns
/
PHEX Phosphate Regulating Neutral Endopeptidase
/
Genetics
/
Hypophosphatasia
/
Mutation
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article
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