AIM: To study the loss of heterozygosity (LOH) at 8p21-23 locus in diffuse gastric cancer.METHODS: To evaluate the involvement of this region in gastric cancer, we used eight microsatellite markers covering two Mb of ...AIM: To study the loss of heterozygosity (LOH) at 8p21-23 locus in diffuse gastric cancer.METHODS: To evaluate the involvement of this region in gastric cancer, we used eight microsatellite markers covering two Mb of mentioned region, to perform a high-resolution analysis of allele loss in 42 cases of late diffuse gastric adenocarcinoma.RESULTS: Six of these STS makers: D8S1149, D8S1645, D8S1643, D8S1508, D8S1591, and D8S1145 showed 36%, 28%, 37%, 41%, 44% and 53% LOH, respectively.CONCLUSION: A critical region of loss, close to the NAT2 locus and relatively far from FEZ1 gene currently postulated as tumor suppressor gene in this region.展开更多
Epigenetic dysregulation comprising DNA hypermethylation and hypomethylation, enhancer of zeste homologue 2 （EZH2） overexpression and altered patterns of histone modifications is associated with the progression of p...Epigenetic dysregulation comprising DNA hypermethylation and hypomethylation, enhancer of zeste homologue 2 （EZH2） overexpression and altered patterns of histone modifications is associated with the progression of prostate cancer. DNA methylation, EZH2 and histone modifications also ensure the parental-specific monoallelic expression of at least 62 imprinted genes. Although it is therefore tempting to speculate that epigenetic dysregulation may extend to imprinted genes, expression changes in cancerous prostates are only well documented for insulin-like growth factor 2 （IGF2）. A literature and database survey on imprinted genes in prostate cancer suggests that the expression of most imprinted genes remains unchanged despite global disturbances in epigenetic mechanisms. Instead, selective genetic and epigenetic changes appear to lead to the inactivation of a sub-network of imprinted genes, which might function in the prostate to limit cell growth induced via the PI3K/Akt pathway, modulate androgen responses and regulate differentiation. Whereas dysregulation of IGF2 may constitute an early change in prostate carcinogenesis, inactivation of this imprinted gene network is rather associated with cancer progression.展开更多
目的通过耳聋相关基因突变率测试新生儿先天性听力损失(HL)的发生率。方法针对沈阳地区连续性新生儿的临床研究,使用PCR反应研究测试了538例出生后3天新生儿,包括四个基因的七个位点:GJB2(176 del 16,235del C,299 del AT),SLC26A4(IVS7...目的通过耳聋相关基因突变率测试新生儿先天性听力损失(HL)的发生率。方法针对沈阳地区连续性新生儿的临床研究,使用PCR反应研究测试了538例出生后3天新生儿,包括四个基因的七个位点:GJB2(176 del 16,235del C,299 del AT),SLC26A4(IVS7-2 A>G,2168 A>G),MTRNR1(1555 A4G)和GJB3(538 C>T),同时记录婴儿出生一般状况。结果 538名新生儿,30例携带致病突变(5.576%)。GJB2(176del 16,235 del C,299 del AT),GJB3(538C>T),SLC26A4(IVS7-2A>G,2168 A>G)和MTRNR1(1555 A>G)突变率分别为0.186%,2.416%,0.558%,0.186%,1.673%,0.186%和0.372%。Logistic回归分析显示基因突变与婴儿性别,早产,双胎状态或出生体重无统计学意义。结论 GJB2(235 del C)突变是中国人群中最常见的耳聋相关突变,耳聋基因的遗传筛选将有助于提高新生儿先天性听力损失的筛出率。展开更多
基金Supported by Research Center of Gastric and Liver Disease in Tehran Taleghani hospital
文摘AIM: To study the loss of heterozygosity (LOH) at 8p21-23 locus in diffuse gastric cancer.METHODS: To evaluate the involvement of this region in gastric cancer, we used eight microsatellite markers covering two Mb of mentioned region, to perform a high-resolution analysis of allele loss in 42 cases of late diffuse gastric adenocarcinoma.RESULTS: Six of these STS makers: D8S1149, D8S1645, D8S1643, D8S1508, D8S1591, and D8S1145 showed 36%, 28%, 37%, 41%, 44% and 53% LOH, respectively.CONCLUSION: A critical region of loss, close to the NAT2 locus and relatively far from FEZ1 gene currently postulated as tumor suppressor gene in this region.
文摘Epigenetic dysregulation comprising DNA hypermethylation and hypomethylation, enhancer of zeste homologue 2 （EZH2） overexpression and altered patterns of histone modifications is associated with the progression of prostate cancer. DNA methylation, EZH2 and histone modifications also ensure the parental-specific monoallelic expression of at least 62 imprinted genes. Although it is therefore tempting to speculate that epigenetic dysregulation may extend to imprinted genes, expression changes in cancerous prostates are only well documented for insulin-like growth factor 2 （IGF2）. A literature and database survey on imprinted genes in prostate cancer suggests that the expression of most imprinted genes remains unchanged despite global disturbances in epigenetic mechanisms. Instead, selective genetic and epigenetic changes appear to lead to the inactivation of a sub-network of imprinted genes, which might function in the prostate to limit cell growth induced via the PI3K/Akt pathway, modulate androgen responses and regulate differentiation. Whereas dysregulation of IGF2 may constitute an early change in prostate carcinogenesis, inactivation of this imprinted gene network is rather associated with cancer progression.
文摘目的通过耳聋相关基因突变率测试新生儿先天性听力损失(HL)的发生率。方法针对沈阳地区连续性新生儿的临床研究,使用PCR反应研究测试了538例出生后3天新生儿,包括四个基因的七个位点:GJB2(176 del 16,235del C,299 del AT),SLC26A4(IVS7-2 A>G,2168 A>G),MTRNR1(1555 A4G)和GJB3(538 C>T),同时记录婴儿出生一般状况。结果 538名新生儿,30例携带致病突变(5.576%)。GJB2(176del 16,235 del C,299 del AT),GJB3(538C>T),SLC26A4(IVS7-2A>G,2168 A>G)和MTRNR1(1555 A>G)突变率分别为0.186%,2.416%,0.558%,0.186%,1.673%,0.186%和0.372%。Logistic回归分析显示基因突变与婴儿性别,早产,双胎状态或出生体重无统计学意义。结论 GJB2(235 del C)突变是中国人群中最常见的耳聋相关突变,耳聋基因的遗传筛选将有助于提高新生儿先天性听力损失的筛出率。
