抄録
It has recently been reported that point mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, resulting in the substitution of an arginine residue for glycine at position 380 of the mature protein, cause of achondroplasia (ACH). In the present study we analyzed the FGFR3 gene of a 6 year old Japanese girl with ACH. Genomic deoxyribonucleic acid (DNA) of the patient was isolated from whole blood. A 164-bp fragment that spans the entire transmembrane domain was amplified by the polymerase chain reaction (PCR). A heterozygous G to A transition at nucleotide 1, 138 of the complementary DNA (cDNA) was demonstrated by direct sequencing of the amplified DNA fragment, and this was confirmed by SfcI digestion of the 164-bp PCR product. The 1, 138A mutation results in the substitution of Arg for Gly at position 380 of the mature FGFR3 protein. The full role of the mutation remains to be determined.
