Katsumata N, Mikami S, Nagashima-Miyokawa A, Nimura A, Sato N, Horikawa R, Tanae A, Tanaka T
Department of Endocrinology and Metabolism, National Children's Medical Research Center, Tokyo, Japan.
Endocr J. 2000 Mar;47 Suppl:S121-4. doi: 10.1507/endocrj.47.supplmarch_s121.
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.
据报道，FGFR3基因突变会导致常染色体显性形式的侏儒症、软骨发育不全（ACH）和低软骨发育不全（HCH）。在本研究中，我们分析了26名日本ACH患者和14名HCH患者的FGFR3基因。从全血中分离出患者的基因组DNA。对于ACH患者，通过聚合酶链反应（PCR）扩增跨越整个跨膜结构域的FGFR3基因的164 bp片段，并通过对PCR产物进行直接测序以及用限制性酶消化PCR产物来分析PCR产物。对于HCH患者，扩增编码TK1结构域一部分的FGFR3基因的206 bp片段，并对PCR产物进行直接测序。在所有26名ACH患者中均鉴定出杂合G380R突变，而在14名HCH患者中的8名中鉴定出杂合N540K突变。这些结果与国外先前的报道一致。
