[Analysis of PHEX gene mutation in a hypophosphatasia pedigree].
OBJECTIVE
To screen potential mutations of PHEX gene in a family featuring hypophosphatemic rickets in order to confirm the molecular diagnosis and pathogenetic mechanism.


METHODS
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.


RESULTS
A mutation was identified in intron 6 of the PHEX gene in the proband and his mother.


CONCLUSIONS
The c.732+1G>T mutation underlies the hypophosphatemic rickets in this family.
Department of Medical Cell Biology and Medical Genetics, Luzhou Medical College, Luzhou, Sichuan 646000, P. R. China. Email: luyimamingyi@163.com.
Ming-yi
MY
Ma
Hua
H
Li
Yan-sen
YS
Cai
D000328:Adult; D001483:Base Sequence; D002648:Child; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000201:enzymology* / Q000235:genetics*; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*; D010375:Pedigree
D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human