目的评价Rapid Chek SELECT方法对食品中沙门菌的检测效果并验证。方法用添加并回收沙门菌标准菌株方法验证Rapid Chek SELECT的检测限,添加非沙门菌标准菌株方法测定其特异性,以国标法为参比,通过检测实际样品,对Rapid Chek SELECT方...目的评价Rapid Chek SELECT方法对食品中沙门菌的检测效果并验证。方法用添加并回收沙门菌标准菌株方法验证Rapid Chek SELECT的检测限,添加非沙门菌标准菌株方法测定其特异性,以国标法为参比,通过检测实际样品,对Rapid Chek SELECT方法进行验证。结果 1Rapid Chek SELECT沙门菌检测试纸条的检测限为1 cfu/25 g(或1 cfu/ml);2与10种非沙门菌无交叉反应特异性;3直接检测食品中沙门菌的最低浓度为106cfu/ml;4对实际样品中沙门菌的检测结果显示,Rapid Chek SELECT方法和国标方法阳性率分别为87.5%(35/40)和85%(34/40),两种方法最终检测结果的符合率为97.5%(39/40),Rapid Chek SELECT方法等同于国标方法。结论与国标方法相比,Rapid Chek SELECT沙门菌检测试剂盒灵敏度高、特异性强、操作简便,有效减少非沙门菌的干扰、省时,适用于食品中沙门菌的快速检测。展开更多
遗传易感基因可使乳腺癌的患病风险增加5％～10％。乳腺癌遗传易感基因1／2（breast cancer sus-ceptibility gene 1／2，BRCA1／2）是已经发现的乳腺癌高外显率遗传易感基因，与29％～81％的遗传性乳腺癌发病有关。然而在乳腺癌高发的...遗传易感基因可使乳腺癌的患病风险增加5％～10％。乳腺癌遗传易感基因1／2（breast cancer sus-ceptibility gene 1／2，BRCA1／2）是已经发现的乳腺癌高外显率遗传易感基因，与29％～81％的遗传性乳腺癌发病有关。然而在乳腺癌高发的西方国家，仍然存在5％～50％的遗传性乳腺癌的家族聚集现象无法用BRCA1／2突变来解释口。。很多乳腺癌的家族聚集现象与BRCA1／2突变无关。根据目前的研究和文献报道，可能存在其他低外显率的基因突变调控乳腺癌的遗传易感性.展开更多
BACKGROUND Solitary rectal ulcer syndrome(SRUS)is a rare rectal disease with unknown etiology.Data on the genetic background in SRUS is lacking.CASE SUMMARY Here,we report the first case of SRUS in a mother-son relati...BACKGROUND Solitary rectal ulcer syndrome(SRUS)is a rare rectal disease with unknown etiology.Data on the genetic background in SRUS is lacking.CASE SUMMARY Here,we report the first case of SRUS in a mother-son relationship.Gene sequencing was conducted on the whole family,which revealed an inherited CHEK2 p.H371Y mutation.The experiment preliminarily revealed that the CHEK2 mutation did not affect the expression of CHEK2 protein,but affected the function of CHEK2,resulting in the expression level changes of downstream genes such as CDC25A.CONCLUSION SRUS is a genetic susceptibility disease where CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS.展开更多
CHEK2 (Checkpoint kinase homolog 2) encodes a protein involved in pathways that arrest the cell cycle in response to genomic stress such as DNA damage or replication blocks. Carriers of some of the CHEK2 mutations are...CHEK2 (Checkpoint kinase homolog 2) encodes a protein involved in pathways that arrest the cell cycle in response to genomic stress such as DNA damage or replication blocks. Carriers of some of the CHEK2 mutations are at an increased risk of breast cancer. A mutation in the kinase domain of the CHEK2 gene resulting in the R406H substitution has been reported. However, it is currently unknown whether the substitution alters the function of CHEK2 in vitro. We evaluated the effect of the R406H substitution on the normal function of CHEK2 using a yeast complementation assay. The yeast cells lacking Rad53, the yeast homologue of human CHEK2 were transformed with the wild type as well as plasmids carrying mutations resulting in the R406H, 1100delC, and S428F variants. Yeast cells carrying the R406H variant grew at a rate similar to those carrying the wild type CHEK2, whereas the yeast carrying the S428F and 1100delC mutants grew at a slower rate. These results suggest that, unlike the well-known pathogenic alleles such as 1100delC and S428F, the R406H substitution does not abrogate the function of CHEK2. Therefore, this variant is probably not important in development of breast cancer in women.展开更多
A deletion variant in the CHEK2gene(del1100C)has been implicated as a low -penetrance risk factor for breastcancer.We sought to determine contr ibution of CHEK2mutations to the etiology of ovarian cancer(OvCa ).We use...A deletion variant in the CHEK2gene(del1100C)has been implicated as a low -penetrance risk factor for breastcancer.We sought to determine contr ibution of CHEK2mutations to the etiology of ovarian cancer(OvCa ).We used cases ascertained from the United States through Gy-necologic Oncology Group(GOG)protocols 172,182,and144,the University of Hawaii Cancer Research Center,and Creighton University.Control women were recruited fromPittsburgh and Hawaii.Denatur ing high -performance liquid chromatography,sequence an alysis,and single nu-cleotide polymorphism genotyping b y Pyrosequencingwere employed to analyze the CHEK2gene.Mutation screening of the CHEK2gene in 48cases who had a f irst -degree relative with OvCa uncovered only del1100C and A252G variants.Altogether,the del1100C variantwas detected in none of 751unselected cases,in 1of 52(1.9%)cases who had a firstdegree relative with OvCa,and in 3of 521(0.6%)unselected controls.The frequencies of del1100C and A252G variants did not show stati stically significant differences between the cases and th e controls.These re-sults suggest that variations in CHEK2do not make a sig-nificant contribution to the pathogenesis of OvCa in the U.S.population.展开更多
文摘目的评价Rapid Chek SELECT方法对食品中沙门菌的检测效果并验证。方法用添加并回收沙门菌标准菌株方法验证Rapid Chek SELECT的检测限,添加非沙门菌标准菌株方法测定其特异性,以国标法为参比,通过检测实际样品,对Rapid Chek SELECT方法进行验证。结果 1Rapid Chek SELECT沙门菌检测试纸条的检测限为1 cfu/25 g(或1 cfu/ml);2与10种非沙门菌无交叉反应特异性;3直接检测食品中沙门菌的最低浓度为106cfu/ml;4对实际样品中沙门菌的检测结果显示,Rapid Chek SELECT方法和国标方法阳性率分别为87.5%(35/40)和85%(34/40),两种方法最终检测结果的符合率为97.5%(39/40),Rapid Chek SELECT方法等同于国标方法。结论与国标方法相比,Rapid Chek SELECT沙门菌检测试剂盒灵敏度高、特异性强、操作简便,有效减少非沙门菌的干扰、省时,适用于食品中沙门菌的快速检测。
文摘遗传易感基因可使乳腺癌的患病风险增加5％～10％。乳腺癌遗传易感基因1／2（breast cancer sus-ceptibility gene 1／2，BRCA1／2）是已经发现的乳腺癌高外显率遗传易感基因，与29％～81％的遗传性乳腺癌发病有关。然而在乳腺癌高发的西方国家，仍然存在5％～50％的遗传性乳腺癌的家族聚集现象无法用BRCA1／2突变来解释口。。很多乳腺癌的家族聚集现象与BRCA1／2突变无关。根据目前的研究和文献报道，可能存在其他低外显率的基因突变调控乳腺癌的遗传易感性.
基金This work was supported by the Guangdong Basic and Applied Basic Research Fund,No.2022A1515111193the Guangzhou Science and technology plan project,No.2023A04J0581.
文摘BACKGROUND Solitary rectal ulcer syndrome(SRUS)is a rare rectal disease with unknown etiology.Data on the genetic background in SRUS is lacking.CASE SUMMARY Here,we report the first case of SRUS in a mother-son relationship.Gene sequencing was conducted on the whole family,which revealed an inherited CHEK2 p.H371Y mutation.The experiment preliminarily revealed that the CHEK2 mutation did not affect the expression of CHEK2 protein,but affected the function of CHEK2,resulting in the expression level changes of downstream genes such as CDC25A.CONCLUSION SRUS is a genetic susceptibility disease where CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS.
文摘CHEK2 (Checkpoint kinase homolog 2) encodes a protein involved in pathways that arrest the cell cycle in response to genomic stress such as DNA damage or replication blocks. Carriers of some of the CHEK2 mutations are at an increased risk of breast cancer. A mutation in the kinase domain of the CHEK2 gene resulting in the R406H substitution has been reported. However, it is currently unknown whether the substitution alters the function of CHEK2 in vitro. We evaluated the effect of the R406H substitution on the normal function of CHEK2 using a yeast complementation assay. The yeast cells lacking Rad53, the yeast homologue of human CHEK2 were transformed with the wild type as well as plasmids carrying mutations resulting in the R406H, 1100delC, and S428F variants. Yeast cells carrying the R406H variant grew at a rate similar to those carrying the wild type CHEK2, whereas the yeast carrying the S428F and 1100delC mutants grew at a slower rate. These results suggest that, unlike the well-known pathogenic alleles such as 1100delC and S428F, the R406H substitution does not abrogate the function of CHEK2. Therefore, this variant is probably not important in development of breast cancer in women.
文摘A deletion variant in the CHEK2gene(del1100C)has been implicated as a low -penetrance risk factor for breastcancer.We sought to determine contr ibution of CHEK2mutations to the etiology of ovarian cancer(OvCa ).We used cases ascertained from the United States through Gy-necologic Oncology Group(GOG)protocols 172,182,and144,the University of Hawaii Cancer Research Center,and Creighton University.Control women were recruited fromPittsburgh and Hawaii.Denatur ing high -performance liquid chromatography,sequence an alysis,and single nu-cleotide polymorphism genotyping b y Pyrosequencingwere employed to analyze the CHEK2gene.Mutation screening of the CHEK2gene in 48cases who had a f irst -degree relative with OvCa uncovered only del1100C and A252G variants.Altogether,the del1100C variantwas detected in none of 751unselected cases,in 1of 52(1.9%)cases who had a firstdegree relative with OvCa,and in 3of 521(0.6%)unselected controls.The frequencies of del1100C and A252G variants did not show stati stically significant differences between the cases and th e controls.These re-sults suggest that variations in CHEK2do not make a sig-nificant contribution to the pathogenesis of OvCa in the U.S.population.
