Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene

PEHLİVAN S., Ozkinay F., Okutman O., Cogulu O., Ozcan A., Cankaya T., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.45, sa.2, ss.99-101, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 45 Sayı: 2
  • Basım Tarihi: 2003
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.99-101
  • Anahtar Kelimeler: achondroplasia, fibroblast growth factor receptor-3 gene, DNA, restriction endonuclease analysis, GROWTH-FACTOR RECEPTOR-3, TRANSMEMBRANE MUTATION, CHROMOSOME 4P, HYPOCHONDROPLASIA, MAPS
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Achondroplasia, the most common form of skeletal dysplasia in man, has autosomal dominant inheritance and causes severe dwarfism. More,than 90% of patients with achondroplasia, have a G to A transversion or G to C transversion at position 1138 of the fibroblast growth factor receptor-3 (FGFR3) gene resulting in the substitution of an arginine for a glycine residue at position 380 (G380R) of the FGFR3 protein. In this study, 12 unrelated Turkish patients with achondroplasia were evaluated for the G to A and G to C transversion at position 1138 of the FGFR3 gene. Eleven of 12 patients carried the G to A mutation heterozygously. None of the patients had the G to C mutation at the same position.