Mutation analysis in Turkish patients with hereditary fructose intolerance

Thirteen Turkish patients with hereditary fructose intolerance (HFI) were screened for the three common mutations, A149P, A174D and N334K, in the aldolase B gene that have been detected frequently in European population. We found that nine of the patients carry the A149P mutation in both alleles, wh...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2001-10, Vol.24 (5), p.523-526
Main Authors: Dursun, A., Kalkanoğlu, H. S., Coşkun, T., Tokatli, A., Bittner, R., Koçak, N, Yüce, A., Ozalp, I., Boehme, H.‐J.
Format: Article
Language:English
Subjects:
Alleles
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
DNA - chemistry
DNA - genetics
Errors of metabolism
Fructose Intolerance - genetics
Fructose Intolerance - metabolism
Fructose-Bisphosphate Aldolase - genetics
Gene Frequency
Humans
Medical sciences
Metabolic diseases
Mutation - genetics
Polymorphism, Single-Stranded Conformational
Reverse Transcriptase Polymerase Chain Reaction
Turkey
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Summary:Thirteen Turkish patients with hereditary fructose intolerance (HFI) were screened for the three common mutations, A149P, A174D and N334K, in the aldolase B gene that have been detected frequently in European population. We found that nine of the patients carry the A149P mutation in both alleles, which corresponds to a frequency of about 55%. Single‐strand conformation analysis of all coding exons of the gene was also performed to detect unknown mutations in four patients not carrying the three common mutations. No aberrant migration patterns were observed in these patients.
ISSN:0141-8955
1573-2665
DOI:10.1023/A:1012423624993