ABSTRACT
Spinal muscular atrophy (SMA) is a group of neuromuscular disorders, caused by degeneration of the motor neurons in the anterior horn of the spinal cord, with prevalence of about 1 in 6000 to 1 in 10000 in newborn. The gene carrying frequency is about 1 in 40 to 1 in 50 all over the world. SMA is one of the most common autosomal recessive diseases causing infant death. SMA mainly refers to SMN1 dependent caused by SMN1 gene mutations. Noninvasiveness and specificity make genetic testing a recommended method for diagnosis of SMA. In addition to conventional methods such as neural nutrition, muscle exercise, etc., there is no specific treatment for SMA up to now. Nevertheless, HDAC inhibitors deserve attention as they are the only drugs completed Phase Ⅲ clinical trials to date. Furthermore, other ways as small-molecule SMN enhancers, induced pluripotent stem cell (iPSC), antisense oligonucleotides to correct SMN2 splicing, etc, were still on the way of in vitro stage at present.
ABSTRACT
Objective To investigate whether XRCC1 was associated with the occurrence of leukemia through the comparison of XRCC1 gene′s polymorphism and hypermethylation between leukemia patients and healthy people .Methods Restriction fragment length polymorphism polymerase chain reaction (PCR‐RFLP) and methylation specific polymerase chain reaction(MSP) were used to detect the polymorphism and promoter region′s methylation of XRCC1 gene in 150 patients with leukemia(patients group) and 150 healthy persons (control group) .Results In different types of leukemia patients ,the genotype of XRCC1 gene loci rs1799782 , rs25487 and rs25489 loci changed in different degrees .The positive rate of XRCC1 gene methylation in different subgroups of pa‐tients group were not statistically significantly different from that of control group(P>0 .05) .Conclusion Genotype distribution and allele frequency and leukemia susceptible have some correlation ,but hypermethylation phenomenon may not exist in XRCC1 gene in leukemia .
ABSTRACT
<p><b>OBJECTIVE</b>To explore the molecular mechanism for a family with hereditary X-linked spondyloepiphysealdysplasia tarda (SEDT).</p><p><b>METHODS</b>For 3 affected males and 2 obligate carrier females from the family, exons 3 to 6 of SEDL gene were amplified with PCR and sequenced.</p><p><b>RESULTS</b>In the three patients, a deletional mutation (c.267_271delAAGAC) in exon 5 has been identified, which has caused frameshift of the protein product.</p><p><b>CONCLUSION</b>c.267_271delAAGAC frameshift mutation of the exon 5 of the SEDL gene probably underlies the disease in this family.</p>