目的：研究染色体10q25上2个单核苷酸多态性（single nucleotide polymorphisms,SNP）位点rs7078160、rs4752028与中国人群非综合征性唇腭裂（non-syndromic cleft lip with or without cleft palate,NSCL/P）发病的相关性。方法：收集...目的：研究染色体10q25上2个单核苷酸多态性（single nucleotide polymorphisms,SNP）位点rs7078160、rs4752028与中国人群非综合征性唇腭裂（non-syndromic cleft lip with or without cleft palate,NSCL/P）发病的相关性。方法：收集180例NSCL/P患者作为病例组,并按照表型分为单纯唇裂组、唇腭裂组、单纯腭裂组,将单纯唇裂组和单纯腭裂组合并为唇/腭裂组;选取360名健康人作为对照组。采集病例组和对照组的外周血血样并提取DNA。对上述2个SNP设计引物,PCR扩增其序列,通过二代测序进行基因型分型。利用SPSS19.0软件包中的χ2检验对病例组与对照组的基因型以及等位基因频率进行分析。结果：rs7078160的等位基因频率在唇/腭裂组与对照组中的差异最为显著（P=0.008,OR=1.500,95%CI=1.116~2.016）,rs4752028位点的等位基因频率在唇/腭裂组和对照组间亦存在显著差异（P=0.028,OR=1.424,95%CI=1.041~1.948）。结论：染色体10q25区域的rs7078160和rs4752028位点与中国人群非综合征性唇腭裂的发病相关。展开更多
AIM: To analyze loss of heterozygosity (LOH) and homozygous deletion on p53 gene (exon2-3, 4 and 11), chromosome 10q22-10q23 and 22q11.2 -22q12.1 in human hepatocellular carcinoma (HCC).METHODS: PCR and PCR-based micr...AIM: To analyze loss of heterozygosity (LOH) and homozygous deletion on p53 gene (exon2-3, 4 and 11), chromosome 10q22-10q23 and 22q11.2 -22q12.1 in human hepatocellular carcinoma (HCC).METHODS: PCR and PCR-based microsatellite polymorphism analysis techniques were used.RESULTS: LOH was observed at D10S579 (10q22-10q23) in 4 of 20 tumors (20%), at D22S421 (22q11.2-22q12.1) in 3 of 20(15%), at TP53.A (p53gene exon 2-3) in 4 of 20 (20%), at TP53.B (p53gene exon 4) in 6 of 20(30%), and at TP53.G (p53gene exon 11)in 0 of 20(0%). Homozygous deletion was detected at 10q22-10q23(8/20; 40%), 22q11.2-22q12.1(8/20; 40%), p53 gene exon 2-3(0/20;0%), p53gene exon 4(6/20; 30%), and p53gene exon 11(2/20; 10%).CONCLUSION: There might be unidentified tumor suppressor genes on chromosome 10q22-10q23 and 22q11.2-22q12.1 that contribute to the pathogenesis and development of HCC.展开更多
Oligodendroglial tumors frequently have deletions ofchromosomal loci on lp and l9q.Loas of heterozygosity(LOH)of chromosome 10 may be a negative prognostic factor.We reviewed 23 patients with oligodendroglial tumors,t...Oligodendroglial tumors frequently have deletions ofchromosomal loci on lp and l9q.Loas of heterozygosity(LOH)of chromosome 10 may be a negative prognostic factor.We reviewed 23 patients with oligodendroglial tumors,toevaluate the frequency of lp and 10q LOH and correlate with clinical outcome.Three loci(DlS402,DlSl 172,MCT118)on lp and 2 loci(Dl0S520 and D10S521)on 10q were analyzed for LOH using PCR techniques.展开更多
文摘目的：研究染色体10q25上2个单核苷酸多态性（single nucleotide polymorphisms,SNP）位点rs7078160、rs4752028与中国人群非综合征性唇腭裂（non-syndromic cleft lip with or without cleft palate,NSCL/P）发病的相关性。方法：收集180例NSCL/P患者作为病例组,并按照表型分为单纯唇裂组、唇腭裂组、单纯腭裂组,将单纯唇裂组和单纯腭裂组合并为唇/腭裂组;选取360名健康人作为对照组。采集病例组和对照组的外周血血样并提取DNA。对上述2个SNP设计引物,PCR扩增其序列,通过二代测序进行基因型分型。利用SPSS19.0软件包中的χ2检验对病例组与对照组的基因型以及等位基因频率进行分析。结果：rs7078160的等位基因频率在唇/腭裂组与对照组中的差异最为显著（P=0.008,OR=1.500,95%CI=1.116~2.016）,rs4752028位点的等位基因频率在唇/腭裂组和对照组间亦存在显著差异（P=0.028,OR=1.424,95%CI=1.041~1.948）。结论：染色体10q25区域的rs7078160和rs4752028位点与中国人群非综合征性唇腭裂的发病相关。
基金Supported by the Natural Science Foundation of Anhui Province,No.99044312(YW),No.01043716(SYG)and Natural Science Foundation of Anhui Educational Commission,No.JL-97-077(YW)
文摘AIM: To analyze loss of heterozygosity (LOH) and homozygous deletion on p53 gene (exon2-3, 4 and 11), chromosome 10q22-10q23 and 22q11.2 -22q12.1 in human hepatocellular carcinoma (HCC).METHODS: PCR and PCR-based microsatellite polymorphism analysis techniques were used.RESULTS: LOH was observed at D10S579 (10q22-10q23) in 4 of 20 tumors (20%), at D22S421 (22q11.2-22q12.1) in 3 of 20(15%), at TP53.A (p53gene exon 2-3) in 4 of 20 (20%), at TP53.B (p53gene exon 4) in 6 of 20(30%), and at TP53.G (p53gene exon 11)in 0 of 20(0%). Homozygous deletion was detected at 10q22-10q23(8/20; 40%), 22q11.2-22q12.1(8/20; 40%), p53 gene exon 2-3(0/20;0%), p53gene exon 4(6/20; 30%), and p53gene exon 11(2/20; 10%).CONCLUSION: There might be unidentified tumor suppressor genes on chromosome 10q22-10q23 and 22q11.2-22q12.1 that contribute to the pathogenesis and development of HCC.
文摘Oligodendroglial tumors frequently have deletions ofchromosomal loci on lp and l9q.Loas of heterozygosity(LOH)of chromosome 10 may be a negative prognostic factor.We reviewed 23 patients with oligodendroglial tumors,toevaluate the frequency of lp and 10q LOH and correlate with clinical outcome.Three loci(DlS402,DlSl 172,MCT118)on lp and 2 loci(Dl0S520 and D10S521)on 10q were analyzed for LOH using PCR techniques.
