Spinal muscular atrophy （SMA） is a common Pautosomal recessive neuromuscular disorder （1in 6000 to 10 000 births） caused by mutations in the SMN1 gene at 5q13. More than 90%-98% of SMA patients show homozygous del...Spinal muscular atrophy （SMA） is a common Pautosomal recessive neuromuscular disorder （1in 6000 to 10 000 births） caused by mutations in the SMN1 gene at 5q13. More than 90%-98% of SMA patients show homozygous deletion of SMN1, which has proved to be useful in the diagnosis of SMA. But it is hampered because of the existence of a highly homologous gene, SMN2. Based on nucleotide mismatches between SMN1 and SMN2, the following two DNA tests are usually performed： single-strand conformational polymorphism （SSCP） and polymerase chain reaction （PCR） followed by a restriction enzyme digestion.In this study we developed a new method for rapid genetic diagnosis of SMA by denaturing high-performance liquid chromatography （DHPLC）, which is based on different retention of homoduplexes and heteroduplexes in detecting the homozygous deletion of SMN1. Both genetic and prenatal diagnoses were performed successfully for a SMA family by DHPLC, which was confirmed as a rapid and effective technique for detecting the deletion of SMN1.展开更多
Vascular endothelial growth factor （VEGF） is an angiogenic regulator that stimulates endothelial cell migration, proliferation, and angiogenesis. VEGF gene therapy is a new promising approach to induce therapeutic a...Vascular endothelial growth factor （VEGF） is an angiogenic regulator that stimulates endothelial cell migration, proliferation, and angiogenesis. VEGF gene therapy is a new promising approach to induce therapeutic angiogenesis for the treatment of ischemic myocardial and limb diseases. Recently, clinical studies have demonstrated successful outcomes using plasmids, retroviruses and adenoviruses.l-3 But the safety of those vectors is poor, which has become a serious concern. Besides immunogenicity caused by viral vectors, a further problem is that viral vectors show a preference to integrate into the transcription or control region of active genes, which may induce tumors and other disorders.展开更多
基金This study was supported by grants from National 863 Program (No. 2002BA711A07-08) and National 973 Program (No.2001CB510302).
文摘Spinal muscular atrophy （SMA） is a common Pautosomal recessive neuromuscular disorder （1in 6000 to 10 000 births） caused by mutations in the SMN1 gene at 5q13. More than 90%-98% of SMA patients show homozygous deletion of SMN1, which has proved to be useful in the diagnosis of SMA. But it is hampered because of the existence of a highly homologous gene, SMN2. Based on nucleotide mismatches between SMN1 and SMN2, the following two DNA tests are usually performed： single-strand conformational polymorphism （SSCP） and polymerase chain reaction （PCR） followed by a restriction enzyme digestion.In this study we developed a new method for rapid genetic diagnosis of SMA by denaturing high-performance liquid chromatography （DHPLC）, which is based on different retention of homoduplexes and heteroduplexes in detecting the homozygous deletion of SMN1. Both genetic and prenatal diagnoses were performed successfully for a SMA family by DHPLC, which was confirmed as a rapid and effective technique for detecting the deletion of SMN1.
基金a grant from the National Natural Science Foundation of China(No.30270734)
文摘Vascular endothelial growth factor （VEGF） is an angiogenic regulator that stimulates endothelial cell migration, proliferation, and angiogenesis. VEGF gene therapy is a new promising approach to induce therapeutic angiogenesis for the treatment of ischemic myocardial and limb diseases. Recently, clinical studies have demonstrated successful outcomes using plasmids, retroviruses and adenoviruses.l-3 But the safety of those vectors is poor, which has become a serious concern. Besides immunogenicity caused by viral vectors, a further problem is that viral vectors show a preference to integrate into the transcription or control region of active genes, which may induce tumors and other disorders.
