Analysis of C.3925_3929 deletional mutations of APC gene in pedigrees with familial adenomatous polyposis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the characteristics of germline mutations of adenomatous polyposis coli (APC) gene in pedigrees affected with familial adenomatous polyposis (FAP).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples from members of the 13 FAP pedigrees. Multiplex ligation-dependent probe amplification (MLPA) was used to detect large fragment deletions of the APC gene. Subsequently, potential mutation was screened from all exons of the APC gene with PCR amplification and direct sequencing.</p><p><b>RESULTS</b>Germline mutations have been identified in 5 FAP pedigrees, which included c.3184_3187delCAAA, c.5432C>T, c.3925_3928delAAAA and c.3925_3929del AAAAG(in two pedigrees). Small deletional mutations were found primarily in the area of AAAAG tandem repeat sequences.</p><p><b>CONCLUSION</b>C.3925_3929 located in AAAAG tandem repeats is probably the hot spot for APC gene mutations, which are mostly deletional mutations, especially the 5 bp base deletion at codon 1309.</p>

Relationship between blood circulation miRˉ21 expression and clinicopathological features of gastric cancer before and after gastric surgery / 国际检验医学杂志

Objective To investigate effect of peripheral blood miR-21 expression on the clinicopathological features of gastric cancer before and after gastric surgery.Methods The peripheral blood was collected on the operative day and postoperative 7 d in 42 patients with primary gastric cancer surgery.The real-tine quantitative PCR was adopted to detect the relative expression of miR-21 in plasma with U6 as an internal reference gene.Results The plasma miR-21 expression level after gastric cancer operation was significantly down-regulated compared with before operation(P <0.01),the overall relative expression level was dropped by an average of 18.2 times;and it was found that the postoperative miR-21 expression in the patients with the tumor family history was up-regulated,the postoperative plasma miR-21 expression in the patients without the tumor family history was decreased by 22 times compared with before operation(P <0.05);the experimental results also fund that as the patient′s differentiation degree was changed from high to low,the lymph node metastasis rate was gradually increased,while postoperative average miR-21 expression was changed from low to high,showing the relative expression times of miR-21 were distributed in the four differentiated zones of high,middle,middle-low and low,which showed the correlation with the distribution of the lymph node metastasis rate in these four differentiation zones.Conclusion The peripheral blood MiR-21 detection has the clinical significance to early auxiliary diagnosis and the judgement of postoperative malignant degree.