Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene
TURKISH JOURNAL OF PEDIATRICS, cilt.45, sa.2, ss.99-101, 2003 (SCI-Expanded, Scopus)
- 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
- 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.