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Mutation analysis in Turkish patients with hereditary fructose intolerance
A Dursun1, H S Kalkanoğlu, T Coşkun
1Hacettepe University School of Medicine, Department of Pediatrics, Ankara, Turkey. adursun@hacettepe.edu.tr
Journal of Inherited Metabolic Disease
|January 5, 2002
Summary
The A149P mutation is common in Turkish patients with hereditary fructose intolerance (HFI), found in 55% of cases. No unknown mutations were detected in this group.
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Hereditary fructose intolerance (HFI) is an inherited metabolic disorder.
- Aldolase B gene mutations are the primary cause of HFI.
- Common mutations vary significantly across different populations.
Purpose of the Study:
- To investigate the frequency of common aldolase B gene mutations in Turkish HFI patients.
- To identify potential novel mutations in Turkish HFI patients.
Main Methods:
- Genetic screening of 13 Turkish HFI patients for three common aldolase B mutations (A149P, A174D, N334K).
- Single-strand conformation analysis (SSCA) of all coding exons for mutation detection in a subset of patients.
Main Results:
- The A149P mutation was identified in both alleles of 9 out of 13 patients (approximately 55% frequency).
- No aberrant migration patterns, suggesting no novel mutations, were observed via SSCA in four patients lacking common mutations.
Conclusions:
- The A149P mutation is a prevalent cause of hereditary fructose intolerance in the Turkish population.
- Further studies are needed to explore the genetic basis of HFI in Turkish patients who do not carry known common mutations.