A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.

Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive osteochondrodysplasia characterized by disproportionately short stature and degenerative joint disease. The objective of this study was to describe a novel nonsense mutation in the sedlin gene (SEDL) causing severe SEDT in a large Chinese pedigree. The clinical features of all affected individuals and female carriers were presented. Four affected males of the family were diagnosed with SEDT according to their clinical and radiological features. Direct DNA sequencing of SEDL was performed. Reverse-transcription polymerase chain reaction (RT-PCR) experiments of total RNA from blood lymphocytes were performed to confirm the defect in SEDL. DNA sequencing revealed that all of the affected males carried a nonsense mutation (c.61G>T) in SEDL that has not been previously reported. The c.61G>T mutation resulted in a premature translation termination codon (GAG>TAG) at amino acid position 21 (p.E21*), and was predicted to initiate the degradation of mutant transcripts through the nonsense-mediated mRNA decay pathway. Two female carriers showed typical sequencing chromatograms of a heterozygote. Following genetic counseling, individual IV7 gave birth to a healthy baby. Therefore, identification of the novel nonsense mutation (c.61G>T) in the SEDT family enables carrier detection, genetic counseling, and prenatal diagnosis. The detailed genotype/phenotype descriptions contribute to the SEDL mutation spectrum. The continued identification of mutations in SEDT patients will greatly aid further elucidation of the role of the sedlin protein in normal bone growth.

Survey of attitude and knowledge of reproductive health among middle school students in Luoyang, China.

The aim of this study was to assess the knowledge and attitude of AIDS and sexual behavior of middle school students. Structural questionnaires were designed to interview 1980 junior and senior middle school students about their basic knowledge, attitude, and behavior with respect to AIDS and sexual behavior. Students were recruited from the six most common middle schools of the six regions in Luoyang City of the Henan Province of China by cluster sampling from September to December of 2004. Results showed that 54.5% of students had not learned about the prevention of HIV/AIDS in school, and 38.3% of students did not have any knowledge about the route of transmission of HIV/AIDS. Furthermore, 91.2% of students were reluctant to share a classroom with HIV/AIDS patients. Approximately 21.7% of students had read books, watched videos, and consulted other media related to sex, 1.1% of students had had sexual intercourse during high school, and 80.5% believed that health education on HIV/AIDS and sex was necessary. The results of this survey showed that middle school students have little knowledge about HIV/AIDS and sex. Therefore, health education programs for HIV/AIDS prevention and sexual health should be developed as soon as possible to help students peacefully get through a sexually puzzling period of life.