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Article in Chinese | WPRIM | ID: wpr-288050

ABSTRACT

<p><b>OBJECTIVE</b>To identify potential mutation of TRAPPC2 gene in a Chinese family affected with X-linked spondyloepiphyseal dysplasia tarda (X-SEDL), and explore its underlying molecular mechanism.</p><p><b>METHODS</b>Peripheral blood samples were collected from 32 members of the family and 50 healthy adults to extract genomic DNA. DNA sequences of exons 3 to 6 and their exon/intron boundaries were amplified with PCR amplification. Direct bi-directional sequencing analysis was performed on the PCR products. The sequences were aligned to the reference sequences from the GenBank to determine mutation site and type.</p><p><b>RESULTS</b>A nucleotide substitution of the splice-donor in TRAPPC2 intron 3, c.93+5G>A, was detected in the proband, but no sequence change was detected in TRAPPC2 exons 3 to 6. All of the 6 male patients and 8 female carriers from the family were detected to have carried this mutation. The same mutation was not found in the remaining 18 family members with a normal phenotype and 50 healthy controls.</p><p><b>CONCLUSION</b>We have detected a c.93+5G>A mutation in the TRAPPC2 gene in a Chinese family affected with X-SEDL. Our results have expanded the spectrum of TRAPPC2 mutations and is helpful for presymptomatic and prenatal diagnoses of this disease.</p>


Subject(s)
Adult , Child , Female , Humans , Male , Asian People , Genetics , Base Sequence , China , DNA Mutational Analysis , Exons , Genetic Diseases, X-Linked , Genetics , Introns , Membrane Transport Proteins , Genetics , Molecular Sequence Data , Osteochondrodysplasias , Genetics , Pedigree , Transcription Factors , Genetics
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