1.Relationship between blood circulation miRˉ21 expression and clinicopathological features of gastric cancer before and after gastric surgery
Rongmin GU ; Min ZHU ; Xu WEN ; Senqing CHEN ; Jintian LI ; Guojian MA
International Journal of Laboratory Medicine 2014;(24):3316-3318
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.
2.Polymorphisms of the CYP1A1 and GSTM1 genes and their combined effects on individual susceptibility to lung cancer in a Chinese population
Kaixian XUE ; Lin XU ; Senqing CHEN ; Guojian MA ; Jianzhong WU
Chinese Journal of Medical Genetics 2001;18(2):125-127
Objective To investigate the polymorphisms of CYP1A1 and GSTM1 genes as well as their separate and combined effects on individual susceptibility to lung cancer. Methods This study was conducted in Jiangsu Province. In the matched 106 pairs of patients with lung cancer and non-cancer control persons,genomic DNA were prepared from peripheral blood samples. The genotypes of CYP1A1 Ile/Val and GSTM1+/0 polymorphisms were detected by the allele-specific (AS)-PCR and multi-differential(MD)-PCR. Results Individuals with genotype Val/Val of CYP1A1,genotype 0/0 of GSTM1, combined genotypes GSTM1 0/0 and CYP1A1 Val/Val, or combined genotypes GSM1 0/0 and CYP1A1 Ile/Val had higher relative risk than those with the corresponding common genotypes and combined genotypes; their odds ratios were 4.02(P=0.03), 1.92(P=0.019), 9.38(P=0.04) and 3.27(P=0.01), respectively. Conclusion There is a synergy of susceptible genotypes GSTM1 0/0 and CYP1A1 Val/Val or CYP1A1 Ile/Val to enhance the individual susceptibility to lung cancer.
3.Analysis of C.3925_3929 deletional mutations of APC gene in pedigrees with familial adenomatous polyposis.
Qingwei CHEN ; Siwen LIU ; Jifeng FENG ; Xiaomei ZHANG ; Senqing CHEN ; Guojian MA ; Ming ZHU ; Yuanying ZHANG ; Jun YU
Chinese Journal of Medical Genetics 2015;32(4):524-528
OBJECTIVETo analyze the characteristics of germline mutations of adenomatous polyposis coli (APC) gene in pedigrees affected with familial adenomatous polyposis (FAP).
METHODSGenomic 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.
RESULTSGermline 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.
CONCLUSIONC.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.
Adenomatous Polyposis Coli ; genetics ; Adenomatous Polyposis Coli Protein ; genetics ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Female ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Sequence Deletion