โ Scribed by Tsai, Fuu-Jen; Tsai, Chang-Hai; Chang, Jan-Gowth; Wu, Jer-Yuarn
No coin nor oath required. For personal study only.
Identification of FGFR3 mutations in 28 achondroplasia patients, in 10 of 18 cases of hypochodroplasia and in both cases with type I TD, is reported here. To detect mutations of achondroplasia, both natural restriction site and amplification created restriction site (ACRS) were utilized. Mutation 1138GโA creates a SfcI site. Primers A1 (5'AGGAGCTGGTGGAGGCTGA-3') and A2 (5'-GGAGATCTTGTGCACGGTGG-3') were used to amplify a 164-bp PCR fragment which will be cut in propositi with 1138 GโA mutation and resulting in two fragments of 55 and 109 bp (Fig. ). Owing to the high cost and difficult digestion condition of SfcI restriction enzyme, ACRS was designed to detect the 1138 GโA mutation. Primer Ach-1 (5'-ATGCAGG-CATCCTCAGCTGC-3') with the nucleotide 1136 changed from A to G (underlined) was synthesized (Fig. ). PCR fragment amplified with Ach-1 and Ach-2 (5'-AAGCGGGAGATCTTGTGCAC-3') will be cut with PstI in an achondroplasia patient with 1138 GโA mutation (Fig. ). For mutation detection of hypochondroplasia, primers HM1 (5'-AGACGATGCCACT-GACAAGGA-3') and FN (5'-GCGTAGTCCACCAG-CACGTAC-3') were used to amplify a PCR fragment, which covers the FGFR3 coding region from nucleotide 1593 to 1691. Direct sequencing was performed to detect either 1620CโG or 1620CโA mutation frequently observed in hypochondroplasia. For mutation detection of type I thanatophoric dysplasia, exon 7 (191-bp) and its flanking region (150-bp) is amplified with primers FGFR3-1F (5'-CGGCAGTGACGGTGGTGGTGA-3')
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