Paper Information

Title:  MUTATIONAL ANALYSIS IN THE TISSUE-NONSPECIFIC ALKALINE PHOSPHATASE GENE IN THE GERMAN PATIENT WITH CHILDHOOD-FORM HYPOPHOSPHATASIA
Type: POSTER
Author(s): SAMARGHANDIAN S.*
 
 *DEPARTMENT OF PHARMACOLOGY, MASHHAD UNIVERSITY OF MEDICAL SCIENCES, MASHHAD, IRAN
 
Name of Seminar: IRANIAN CONGRESS OF PHYSIOLOGY AND PHARMACOLOGY
Type of Seminar:  CONGRESS
Sponsor:  PHYSIOLOGY AND PHARMACOLOGY SOCIETY, MASHHAD UNIVERSITY OF MEDICAL SCIENCE
Date:  2009Volume 19
 
 
Abstract: 

Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of tissue nonspecific alkaline phosphatase (TNSALP). Hypophosphatasia is characterized by rickets or osteomalacia due to skeletal hypomineralization and is highly variable in its clinical expression. Mutations in the TNSALP gene have been found in North American, European and Japanese patients. We searched for mutations in the tissue-non specific alkaline phosphatase gene from 3 German family members with childhood-form hypophosphatasia and its inheritance patterns. Genomic DNA was isolated fro peripheral blood leukocytes after we had obtained informed consent. The German patients were affected by childhood form of hypophosphatasia. All coding regions of the TNSALP gene have been amplified by PCR method. The PCR products were subjected to direct sequencing method to determine mutation sites. To confirm the mutation and inheritance patterns, we used allele-specific PCR or PCR-RFLP methods. Our investigation on 3 German patients with hypophosphatasia showed in family A, the patient had E 174k (571 G>A) mutation in exon6 and ΔF310 (981del CTT) mutation in exon9. In family B, the patient showed only E174K (571G>A) mutation in exon6. We also showed in family C, the patient was affected by R119H (407G>A) mutation in exon5. Our data which based on allele-specific PCR revealed the E174K mutation in exon6 was derived from the mother in family A and also from the father in family B. Inheritance patterns of ΔF310 and R119H are now under investigation. This data can confirm that E174K mutation is quite frequent in moderate hypophosphayasia (childhoodform).

 
Keyword(s): MUTATIONAL ANALYSIS, HYPOPHOSPHATASIA, ALKALINE PHOSPHATASE GENE
 
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