AIM To investigate the relationship between the expression of p16 gene and the gastric carcinogenesis,depth of invasion and lymph node metastases, and to evaluate the deletion and mutation of exon 2 in p16 gene in gas...AIM To investigate the relationship between the expression of p16 gene and the gastric carcinogenesis,depth of invasion and lymph node metastases, and to evaluate the deletion and mutation of exon 2 in p16 gene in gastric carcinoma.METHODS The expression of P16 protein was examined by streptavidin-peroxidase conjugated method (S-P); the deletion and mutation of p16 gene were respectively examined by polymerase chain reaction (PCR) and polymerase chain reaction single-strand conformation polymorphism analysis (PCR-SSCP) in gastric carcinoma.RESULTS Expression of P16 protein was detected in 96.25% (77/80) of the normal gastric mucosa, in 92.00% (45/50) of the dysplastic gastric mucosa and in 47.54% (58/122) of the gastric carcinoma. The positive rate of P16 protein expression in gastric carcinoma was significantly lower than that in normal gastric mucosa and dysplastic gastric mucosa (P＜0.05). The positive rate of P16 protein expression in mucoid carcinoma 10.00% (1/ 10) was significantly lower than that in poorly differentiated carcinoma 51.22% ( 21/ 41 ),undifferentiated carcinoma 57.69% (15/26) and signet ring cell carcinoma 62.50% (10/ 16) (P＜0.05). The positive rate of p16 protein in 30 cases paired primary and lymph node metastatic gastric carcinoma: There was 46.67% (14/30) in primary gastric carcinoma, 16.67% (5/30) in lymph node metastatic gastric carcinoma. The positive rate of lymph node metastatic carcinoma was significantly lower than that of primary carcinoma (P＜0.05). There was of p16 gene mutation in exon 2, but 5 cases displayed deletion of p16 gene in exon 2 in the 25 primary gastric carcinomas.CONCLUSIONS The expression loss of P16 protein related to the gastric carcinogenesis, gastric carcinoma histopathological subtypes and lymph metastasis. The mutation of p16 gene in exon 2 may not be involved in gastric carcinogenesis. But the deletion of p16 gene in exon 2 may be involved in gastric carcinogenesis.展开更多
AIM:To investigate the hepatitis B virus (HBV) x gene (HBx) state in the tissues of HBV-related hepatocellular carcinoma (HCC) in Chinese patients and whether there were particular HBx mutations. METHODS: HBx gene was...AIM:To investigate the hepatitis B virus (HBV) x gene (HBx) state in the tissues of HBV-related hepatocellular carcinoma (HCC) in Chinese patients and whether there were particular HBx mutations. METHODS: HBx gene was amplified and direct sequencing was used in genomic DNA samples from 20 HCC and corresponding non-cancerous liver tissues from HBsAg-positive patients. HBV DNA integration and HBx deleted mutation were validated in 45 HCC patients at different stages by Southern blot analysis and polymerase chain reaction methods. RESULTS: The frequencies of HBx point mutations were significantly lower in HCC than their corresponding non- cancerous liver tissues (11/19 vs 18/19, P = 0.019). In contrast, deletions in HBx gene were significantly higher in HCC than their non-cancerous liver tissues (16/19 vs 4/19, P < 0.001). The deletion of HBx COOH-terminal was detected in 14 HCC tissues. A specific integration of HBx at 17p13 locus was also found in 8 of 16 HCC, and all of them also exhibited full-length HBx deletions. Integrated or integrated coexistence with replicated pattern was obtained in 45.5% (20/45) - 56.8% (25/45) tumors and 40.9% (18/45) - 52.3% (23/45) non-tumor tissues. CONCLUSION: HBx deletion, especially the COOH- terminal deletion of HBx is a frequent event in HBV-associated HCC tissues in China. HBV integration had also taken place in partial HCC tissues. This supporting the hypothesis that deletion and probably integrated forms of the HBx gene may be implicated in liver carcinogenesis.展开更多
目的探讨1例CorneliadeLange综合征（Cornelia de Langesyndrome，CdLS）患儿基因型与表型的对应关系。方法对1例经剖宫产出生、拟诊为CdLS的女婴进行基因检测。结果患儿表现为特殊面容，眉毛长且浓密，眼距宽，矢状缝大，耳位低，下颌...目的探讨1例CorneliadeLange综合征（Cornelia de Langesyndrome，CdLS）患儿基因型与表型的对应关系。方法对1例经剖宫产出生、拟诊为CdLS的女婴进行基因检测。结果患儿表现为特殊面容，眉毛长且浓密，眼距宽，矢状缝大，耳位低，下颌后缩，双脚拇趾为多趾并趾，哭声低、吸吮差、反应迟钝。对CdLS相关的NIPBL、SMC1A、SMC3、RAD21和HDAC8基因进行检测发现，患儿的NIPBL基因存在杂合缺失突变，缺失区域涉及第46外显子和第47外显子的一部分，可能使下游序列发生移码，导致蛋白序列异常。结论发现了1例CdLS相关的新突变，丰富了NIPBL基因的突变谱，对于进一步明确其基因型一表型的对应关系具有重要的价值。展开更多
弥漫大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)是恶性淋巴瘤REAL(revised European-American lymphoma)分类和WHO(world health organization)分类中最常见的非霍奇金淋巴瘤(non-hodgkin lym-phoma,NHL)类型,DLBCL是一种异...弥漫大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)是恶性淋巴瘤REAL(revised European-American lymphoma)分类和WHO(world health organization)分类中最常见的非霍奇金淋巴瘤(non-hodgkin lym-phoma,NHL)类型,DLBCL是一种异质性很强的病症,发病机制错综复杂,涉及染色体易位,其中bcl-6基因的3q27染色体易位较为常见,还涉及bcl-2基因t(14;18)(q32;q21)的易位,以及t(8;14)(q24;q32)与IgH基因融合所发生的病变;异常体细胞高频突变涉及pim-1、myc、RhoH/TTF和PAX5等原癌基因;p53基因失活与其他基因突变;p16基因的沉默表达;原癌基因rel、myc和bcl-2扩增等多个方面,从以上方面总结不同基因病变在DLBCL发病中的作用.展开更多
基金the grant from the Teaching Committee of HunanProvince,No.97B095the"8th 5-year Plan"of Health Department of Hunan Province,No.9301
文摘AIM To investigate the relationship between the expression of p16 gene and the gastric carcinogenesis,depth of invasion and lymph node metastases, and to evaluate the deletion and mutation of exon 2 in p16 gene in gastric carcinoma.METHODS The expression of P16 protein was examined by streptavidin-peroxidase conjugated method (S-P); the deletion and mutation of p16 gene were respectively examined by polymerase chain reaction (PCR) and polymerase chain reaction single-strand conformation polymorphism analysis (PCR-SSCP) in gastric carcinoma.RESULTS Expression of P16 protein was detected in 96.25% (77/80) of the normal gastric mucosa, in 92.00% (45/50) of the dysplastic gastric mucosa and in 47.54% (58/122) of the gastric carcinoma. The positive rate of P16 protein expression in gastric carcinoma was significantly lower than that in normal gastric mucosa and dysplastic gastric mucosa (P＜0.05). The positive rate of P16 protein expression in mucoid carcinoma 10.00% (1/ 10) was significantly lower than that in poorly differentiated carcinoma 51.22% ( 21/ 41 ),undifferentiated carcinoma 57.69% (15/26) and signet ring cell carcinoma 62.50% (10/ 16) (P＜0.05). The positive rate of p16 protein in 30 cases paired primary and lymph node metastatic gastric carcinoma: There was 46.67% (14/30) in primary gastric carcinoma, 16.67% (5/30) in lymph node metastatic gastric carcinoma. The positive rate of lymph node metastatic carcinoma was significantly lower than that of primary carcinoma (P＜0.05). There was of p16 gene mutation in exon 2, but 5 cases displayed deletion of p16 gene in exon 2 in the 25 primary gastric carcinomas.CONCLUSIONS The expression loss of P16 protein related to the gastric carcinogenesis, gastric carcinoma histopathological subtypes and lymph metastasis. The mutation of p16 gene in exon 2 may not be involved in gastric carcinogenesis. But the deletion of p16 gene in exon 2 may be involved in gastric carcinogenesis.
基金The National Natural Science Foundation of China, No. 30070344 and 30070839MZ and NIH grants CA104025 and CA111427 to MAF
文摘AIM:To investigate the hepatitis B virus (HBV) x gene (HBx) state in the tissues of HBV-related hepatocellular carcinoma (HCC) in Chinese patients and whether there were particular HBx mutations. METHODS: HBx gene was amplified and direct sequencing was used in genomic DNA samples from 20 HCC and corresponding non-cancerous liver tissues from HBsAg-positive patients. HBV DNA integration and HBx deleted mutation were validated in 45 HCC patients at different stages by Southern blot analysis and polymerase chain reaction methods. RESULTS: The frequencies of HBx point mutations were significantly lower in HCC than their corresponding non- cancerous liver tissues (11/19 vs 18/19, P = 0.019). In contrast, deletions in HBx gene were significantly higher in HCC than their non-cancerous liver tissues (16/19 vs 4/19, P < 0.001). The deletion of HBx COOH-terminal was detected in 14 HCC tissues. A specific integration of HBx at 17p13 locus was also found in 8 of 16 HCC, and all of them also exhibited full-length HBx deletions. Integrated or integrated coexistence with replicated pattern was obtained in 45.5% (20/45) - 56.8% (25/45) tumors and 40.9% (18/45) - 52.3% (23/45) non-tumor tissues. CONCLUSION: HBx deletion, especially the COOH- terminal deletion of HBx is a frequent event in HBV-associated HCC tissues in China. HBV integration had also taken place in partial HCC tissues. This supporting the hypothesis that deletion and probably integrated forms of the HBx gene may be implicated in liver carcinogenesis.
文摘目的探讨1例CorneliadeLange综合征（Cornelia de Langesyndrome，CdLS）患儿基因型与表型的对应关系。方法对1例经剖宫产出生、拟诊为CdLS的女婴进行基因检测。结果患儿表现为特殊面容，眉毛长且浓密，眼距宽，矢状缝大，耳位低，下颌后缩，双脚拇趾为多趾并趾，哭声低、吸吮差、反应迟钝。对CdLS相关的NIPBL、SMC1A、SMC3、RAD21和HDAC8基因进行检测发现，患儿的NIPBL基因存在杂合缺失突变，缺失区域涉及第46外显子和第47外显子的一部分，可能使下游序列发生移码，导致蛋白序列异常。结论发现了1例CdLS相关的新突变，丰富了NIPBL基因的突变谱，对于进一步明确其基因型一表型的对应关系具有重要的价值。
文摘弥漫大B细胞淋巴瘤(diffuse large B-cell lymphoma,DLBCL)是恶性淋巴瘤REAL(revised European-American lymphoma)分类和WHO(world health organization)分类中最常见的非霍奇金淋巴瘤(non-hodgkin lym-phoma,NHL)类型,DLBCL是一种异质性很强的病症,发病机制错综复杂,涉及染色体易位,其中bcl-6基因的3q27染色体易位较为常见,还涉及bcl-2基因t(14;18)(q32;q21)的易位,以及t(8;14)(q24;q32)与IgH基因融合所发生的病变;异常体细胞高频突变涉及pim-1、myc、RhoH/TTF和PAX5等原癌基因;p53基因失活与其他基因突变;p16基因的沉默表达;原癌基因rel、myc和bcl-2扩增等多个方面,从以上方面总结不同基因病变在DLBCL发病中的作用.
