Mutation analysis in Turkish patients with hereditary fructose intolerance

DURSUN A., Kalkanoǧlu H., Coşkun T., TOKATLI A., Bittner R., KOÇAK N., ...Daha Fazla

Journal of Inherited Metabolic Disease, cilt.24, sa.5, ss.523-526, 2001 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 5
  • Basım Tarihi: 2001
  • Doi Numarası: 10.1023/a:1012423624993
  • Dergi Adı: Journal of Inherited Metabolic Disease
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.523-526
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.