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Mutation analysis in Turkish patients with hereditary fructose intolerance
Author(s) -
Dursun A.,
Kalkanoğlu H. S.,
Coşkun T.,
Tokatli A.,
Bittner R.,
Koçak N,
Yüce A.,
Ozalp I.,
Boehme H.J.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1012423624993
Subject(s) - aldolase b , genetics , turkish population , exon , allele , mutation , gene , compound heterozygosity , aldolase a , korean population , coding region , polymorphism (computer science) , turkish , allele frequency , human genetics , population , medicine , biology , fructose bisphosphate aldolase , genotype , biochemistry , enzyme , linguistics , philosophy , environmental health
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.