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Published on: October 20, 2019
[Analysis of PHEX gene mutation in a hypophosphatasia pedigree]
Ming-yi Ma1, Hua Li, Yan-sen Cai
1Department of Medical Cell Biology and Medical Genetics, Luzhou Medical College, Luzhou, Sichuan 646000, P. R. China.
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.
Resutls:
A mutation was identified in intron 6 of the PHEX gene in the proband and his mother.
Conclusion:
The c.732+1G>T mutation underlies the hypophosphatemic rickets in this family.
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