Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect the mutation of the SEDL gene in an X-linked spondyloepiphyseal dysplasia tarda (SEDL) family.</p><p><b>METHODS</b>Two patients and three females of the X-SEDL family were detected using reverse transcriptase PCR (RT-PCR) and sequence analysis.</p><p><b>RESULTS</b>A G209A mutation of SEDL gene was detected in the cDNA sequences of the patients, which was confirmed by sequence analysis of the exon 4 of the SEDL gene. The daughter of the proband was a carrier of the mutation.</p><p><b>CONCLUSION</b>Since the SEDL gene is relatively small, sequence analysis of cDNA of the SEDL gene was possible after extraction of total RNA followed by RT-PCR. Mutations in the open reading frame can be detected y by cDNA sequencing. It was relatively more rapid and direct than amplifying and detecting the exons one by one.</p>