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- W2392182952 abstract "Objective To investigate EXT1 gene mutation in a family with hereditary multiple osteochondromas. Methods The 11 exons of EXT1 gene from the genomic DNA of peripheral blood cells from the proband were amplified by PCR and sequenced. The products of PCR were inserted into pGEM-T cloning vector to confirm the mutation. The corresponding exons of EXT1 gene of other family members were also sequenced. Results The proband's clinical manifestations were consistent with hereditary multiple osteochondromas. The clinical manifestations of the proband's father were much milder than those of the proband. The 11 siblings of the proband's father and their offsprings were free from hereditary multiple osteochondromas. Sequence analysis showed that there was a heterozygous mutation (1476-1477delTC) in exon 6 of the EXT1 gene from the proband. Blood cells, sperms and oral mucosal cells of the proband's father carried the same mutation, but the sequencing signals were obviously weaker than that of the proband. In T cloning-sequencing of the PCR products, the recombinants carrying EXT1 gene mutation from blood cells, sperms and oral mucosal cells of the proband's father accounted for 10%, 2.6% and 13.3% of the total, respectively. No mutation was found in the EXT1 gene of other 11 siblings. Conclusion A de novo deletion mutation of EXT1 gene had occurred in early embryogenesis of the proband's father, resulting in the presence of this mutation in part of the body's cells (including part of the chondrocytes), which in turn leads milder hereditary multiple osteochondromas." @default.
- W2392182952 created "2016-06-24" @default.
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- W2392182952 date "2011-01-01" @default.
- W2392182952 modified "2023-09-26" @default.
- W2392182952 title "Mutational analysis of the EXT1 gene from a pedigree with hereditary multiple osteochondromas" @default.
- W2392182952 hasPublicationYear "2011" @default.
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