Analysis of the FGFR3 Gene in Japanese Patients with Achondroplasia and Hypochondroplasia

Endocrine Journal

NAOKO SATO¹  ATSUKO NIMURA¹  SHOKO MIKAMI¹  AYAKO TANAE¹  REIKO HORIKAWA¹  ATSUKO NAGASHIMA-MIYOKAWA¹  TOSHIAKI TANAKA¹  NORIYUKI KATSUMATA¹ 

[1] Department of Endocrinology and Metabolism, National Children';s Medical Research Center and Division of Endocrinology and Metabolism, National Children';s Hospital

关键词: Achondroplasia;    Hypochondroplasia;    Fibroblast growth factor receptor 3 (FGFR3);    Gene;    Mutation;   

DOI  :  10.1507/endocrj.47.SupplMarch_S121

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(10)Cited-By(6)It has been reported that mutations in the FGFR3 gene cause autosomal dominant forms of dwarfism, achondroplasia (ACH) and hypochondroplasia (HCH). In the present study, we analyzed the FGFR3 gene in 26 Japanese patients with ACH and 14 with HCH. Genomic DNAs of the patients were isolated from whole blood. For the ACH patients, a 164-bp fragment of the FGFR3 gene that spans the entire transmembrane domain was amplified by polymerase chain reaction (PCR), and the PCR products were analyzed by direct sequencing of the PCR products and by digestion of the PCR products with restriction enzymes. For the HCH patients, a 206-bp fragment of the FGFR3 gene which encodes a part of the TK1 domain was amplified, and the PCR products were directly sequenced. The heterozygous G380R mutations were identified in all of the 26 ACH patients, whereas the heterozygous N540K mutations were identified in 8 out of 14 HCH patients. These results were consistent with previous reports from abroad.

【 授权许可】

Unknown