Pehlivan Sacide, Ozkinay Ferda, Okutman Ozlem, Coğulu Ozgür, Ozcan Ali, Cankaya Tufan, Ulgenalp Ayfer
Department of Molecular Biology, Faculty of Science, Ege University, Izmir, Turkey.
Turk J Pediatr. 2003 Apr-Jun;45(2):99-101.
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. In conclusion, the vast majority of Turkish achondroplasia patients have the same mutation that has been most often defined in patients with achondroplasia from other countries. Our results give further support to the fact that the G380R mutation of FGFR-3 is the most common mutation causing achondroplasia in different populations.
软骨发育不全是人类骨骼发育不良最常见的形式,具有常染色体显性遗传特征,并会导致严重侏儒症。超过90%的软骨发育不全患者在成纤维细胞生长因子受体3(FGFR3)基因的第1138位发生了G到A的颠换或G到C的颠换,导致FGFR3蛋白第380位(G380R)的甘氨酸残基被精氨酸取代。在本研究中,对12名无亲缘关系的土耳其软骨发育不全患者进行了FGFR3基因第1138位G到A和G到C颠换的评估。12名患者中有11名携带G到A突变的杂合子。所有患者在同一位置均未发生G到C突变。总之,绝大多数土耳其软骨发育不全患者具有与其他国家软骨发育不全患者中最常发现的相同突变。我们的结果进一步支持了FGFR - 3的G380R突变是不同人群中导致软骨发育不全最常见突变这一事实。