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mutation carriers
相关语句
  突变携带者
     Hormone replacement therapy and the risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
     BRCA1和BRCA2突变携带者进行激素替代治疗与卵巢癌发生风险
短句来源
     Cancer risks in LKB1 germline mutation carriers
     LKB1种系突变携带者的癌症发生风险
短句来源
     Results Five mutations were found in all. Four of the 5 different TCF1 mutations were newly identified novel mutations(T82M,Q130H,G253G,P353fsdelACGGGCCTGGAGC), mean body mass index of mutation carriers was 21.9 kg/m2, and insulin secretion was impaired in the mutation carriers.
     结果总共发现5个突变,其中4个突变位点(T82M,Q130H,G253G,P353fsdelACGGGCCTGGAGC)为新发现的突变位点,突变携带者平均体重指数为21.9kg/m2,胰岛素分泌受损。
短句来源
     The 2h plasma glucose level in the non-diabetic mutation carriers was significantly higher than that in the non-mutated subjects (P= 0.024 9).
     非糖尿病突变携带者餐后 2h血糖水平明显高于非突变携带者 (P =0 .0 2 4 9)。
短句来源
     Methods The polymorphic poly Q encoding sequences of ACTR gene from 107 DNA samples, including breast cancer cell lines, sporadic primary breast tumors, and blood samples from BRCA1/BRCA2 mutation carriers and the general population, were resolved by PCR/cloning and sequencing of each individual clone.
     方法 :10 7个DNA样本来自乳腺癌细胞系、原发性乳腺癌、BRCA1/BRCA2突变携带者外周血和正常对照人群外周血 ,应用PCR克隆 /测序方法鉴别个体的每一种特异polyQ编码序列。
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  “mutation carriers”译为未确定词的双语例句
     Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers
     Lewy小体帕金森病在一个有77例Pakin基因突变携带者大家系中的发病情况
短句来源
     The mutations of 1376 (G→T)and 1388(G→A)can cause hyperbilirubinemia in newborn,acutehemolytic anemia,hereditary nonsphereeytic hemolyticanemia and mutation carriers who have no clinical mani-festations.
     cDNA1376(G→T)和cDNA1388(G→A)两种突变均可导致新生儿高胆红素血症、急性溶血、遗传性非球形细胞性溶血性贫血、无症状基因突变携带者等临床表现。
短句来源
     Conclusion Gene diagnosis can be done for PKD2 mutation carriers prior to cytogenesis.
     在 3个家系的 4名未发病成员中发现 2例携带PKD2基因突变的症状前个体。
短句来源
     To study the BRCA1 gene mutation and the clinical and pathological features of Chinese mutation carriers, we detected the BRCA1 gene mutation in Chinese early onset and familiar breast cancer patients and we also compared the mutation associated breast cancer to the sporadic one in pathological and mammographic features.
     为研究中国乳腺癌人群中BRCA1突变的发生情况及其临床和病理特点,本课题对中国家族性和早发性乳腺癌患者的BRCA1基因进行了突变检测,同时还对突变相关性乳腺癌与散发性乳腺癌的病理表现和钼靶特点的差别进行了探讨。
短句来源
     To search the genetic heterogeneity of ADPKD and to compare the clinical presentation between ADPKD type 1 and 2 in Shanghai Han population, develop a method of gene diagnosis by linkage analysis with microsatellite DNA tightly linked to PKD1 and PKD2 and make gene diagnosis of mutation carriers before cystogenesis, detect single nucleotide polymorphism of PKD2 and its frequence in Han population.
     比较PKD1和PKD2基因型患者的表型差异; 建立可进行产前诊断和囊肿前诊断的基因诊断方法,为临床应用奠定实验基础;
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  相似匹配句对
     Cancer risks in LKB1 germline mutation carriers
     LKB1种系突变携带者的癌症发生风险
短句来源
     And the mutation is random.
     这些变异具有一定的随机性。
短句来源
     The Mutation of Antioxidant D
     橡胶防老剂D致突作用研究
短句来源
     On information carriers
     论信息载体
短句来源
     Relationship between core promoter mutation, clinical features and virus replication in HBV carriers
     HBV核心启动子突变与临床表现及病毒复制的关系
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  mutation carriers
Notwithstanding the rapid elimination of the mutation from the population, positive selection for viability was shown, which increased fitness of the mutation carriers in generations.
      
In HCHWA-D mutation carriers, the concentration of factor XIa-βPP complexes was not related to age, and there was no difference between presymptomatic and symptomatic mutation carriers.
      
Eleven of the (affected and unaffected) mutation carriers had previously undergone 18-fluoro-dopa-(FDOPA)-PET scans.
      
A negative correlation between FDOPA uptake in the posterior putamen and maximum aSN was found in the group of mutation carriers (r = -0.809, p = 0.0234).
      
Risk-reducing surgeries remain the most effective means of preventing breast cancer in mutation carriers.
      
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y amplifying 639bp DNA fragment of exons 10,11,12,13 of G6PD gene,two mutations,cDNA1376 ( G→T) and cDNA1388( G→A) occuring in Chinese,weredetected.Among 40 G6PD- deficient individuals of Guangxi origin, there were 12 male hemizygotes of 1376( G→T) ,10 male hemizygotes of 1388 ( G→A),1 fe-male homozygote of 1388 (G→A) and 1 female doubleheterozygote of 1376( G→A) /1388(G→A ). The fre-quencies of 1376(G→T)and 1388 (G→A)are both31.0%. The mutations of 1376 (G→T)and 1388(G→A)can cause hyperbilirubinemia in newborn,acutehemolytic...

y amplifying 639bp DNA fragment of exons 10,11,12,13 of G6PD gene,two mutations,cDNA1376 ( G→T) and cDNA1388( G→A) occuring in Chinese,weredetected.Among 40 G6PD- deficient individuals of Guangxi origin, there were 12 male hemizygotes of 1376( G→T) ,10 male hemizygotes of 1388 ( G→A),1 fe-male homozygote of 1388 (G→A) and 1 female doubleheterozygote of 1376( G→A) /1388(G→A ). The fre-quencies of 1376(G→T)and 1388 (G→A)are both31.0%. The mutations of 1376 (G→T)and 1388(G→A)can cause hyperbilirubinemia in newborn,acutehemolytic anemia,hereditary nonsphereeytic hemolyticanemia and mutation carriers who have no clinical mani-festations.

通过扩增葡萄糖-6-磷酸脱氢酶(G6PD)基因第10,11,12,13外显子639bpDNA片段结合寡核苷酸探针斑点杂交技术,在40例广西籍C6PD缺陷者中检测中国人常见G6PD突变cDNA1376(G→T)和cDNA1388(G→A)。结果检出cDNA1376(G→T)男性半合子12例,cDNA1388(G→A)男性半合子10例,cDNA1388(G→A)女性纯合子1例,cDNA1376(G→T)和cDNA1388(G→A)女性双重杂合子1例。cDNA1376(G→T)突变的频率为31.0%,cDNA1388(G→A)突变的频率为31.0%。cDNA1376(G→T)和cDNA1388(G→A)两种突变均可导致新生儿高胆红素血症、急性溶血、遗传性非球形细胞性溶血性贫血、无症状基因突变携带者等临床表现。

Objectives To ascertain the presence of the Ser 20Gly mutation of islet amyloid polypeptide (IAPP) gene and its impact on NIDDM in Chinese. Methods In 896 Chinese, 825 were unrelated subjects (NIDDM in 609 and non diabetics, 216) and 71 were family members of the pedigrees with IAPP gene Ser 20Gly carrier probands detected from population screening. The mutation was examined by PCR RFLP MspI digestion in population screening and the results was randomly checked by direct DNA sequencing....

Objectives To ascertain the presence of the Ser 20Gly mutation of islet amyloid polypeptide (IAPP) gene and its impact on NIDDM in Chinese. Methods In 896 Chinese, 825 were unrelated subjects (NIDDM in 609 and non diabetics, 216) and 71 were family members of the pedigrees with IAPP gene Ser 20Gly carrier probands detected from population screening. The mutation was examined by PCR RFLP MspI digestion in population screening and the results was randomly checked by direct DNA sequencing. Data were analyzed through association as well as linkage approaches. Results The Ser20Gly mutation of the IAPP gene was observed in Chinese. It was more prevalent in NIDDM (17 cases, 2.8%) than in non diabetics (1 cases, 0.5%) (Fisher two tailed exact P =0.05). The mutation carrier detected by PCR RFLP was confirmed to be the A to G point mutation in nucleotide 582 of IAPP gene cDNA encoding the amino acid codon 20. All the mutation carriers detected in population screening were heterozygotes. Analysis of the family members of the 12 NIDDM pedigrees with the IAPP gene Ser20Gly mutation showed that in two families, the mutation was not cosegregated with the affection status. The older was the age of Ser20Gly mutant carrier, the more prevalent was the diabetes in families ( P =0 0001). The highest total lod score of this 12 pedigree was 0.021(θ=0) in parametric linkage analysis with the model of autosomal dominance with incomplete penetrance. Conclusion The Ser20Gly mutation of IAPP gene was present in Chinese. This mutation does not cause monogenic inheritance diabetes, but may be a pathogenetic factor for the development of NIDDM, the complex genetic disease.

目的明确中国人是否存在胰岛淀粉样物多肽(IAPP)基因Ser20Gly突变以及该突变是否与中国人非胰岛素依赖型糖尿病(NIDDM)相关。方法896例中国人,其中无亲缘关系个体825例,其中NIDDM609例,非糖尿病(ND)216例;群体筛查所得IAPP基因Ser20Gly突变携带者的家系成员71例。应用聚合酶链反应限制性片段长度多态(PCRRFLP)MspI酶解法在群体中筛查突变,部分尚行直接DNA序列分析。按关联及连锁途径分析数据。结果IAPP基因Ser20Gly突变在NIDDM者中(17例,占28%)较ND者(1例,占05%)中多见(Fisher确切P=005)。PCRRFLP测得的突变携带者经DNA直接序列分析证实为IAPP基因cDNA中相当于氨基酸残基密码20的nt582A→G点突变。群体筛查中所见突变携带者均为杂合子。12个NIDDM伴Ser20GLy突变的家系成员分析,见到两个家系中突变与疾病不呈共同分离。Ser20Gly突变携带者年龄越大,NIDDM越多见(P=00001)。以常染色体显性遗传伴不完全外显模式进行参数性连锁分析,12个家系总lod值最高为0021(θ=0)。结?

Objective To detect mutations of the RET proto oncogene in a family with multiple endocrine neoplasia type Ⅱa (MEN Ⅱa). Methods Nine family members were recruited to the study. One of them with MEN Ⅱa syndrome and the other one with medullary thyroid carcinoma were diagnosed by pathology. Peripheral blood was collected and total genomic DNA was prepared for polymerase chain reaction (PCR). PCR products of exon 10 and exon 11 of the RET proto oncogene were purified and a direct DNA sequence analysis was...

Objective To detect mutations of the RET proto oncogene in a family with multiple endocrine neoplasia type Ⅱa (MEN Ⅱa). Methods Nine family members were recruited to the study. One of them with MEN Ⅱa syndrome and the other one with medullary thyroid carcinoma were diagnosed by pathology. Peripheral blood was collected and total genomic DNA was prepared for polymerase chain reaction (PCR). PCR products of exon 10 and exon 11 of the RET proto oncogene were purified and a direct DNA sequence analysis was performed. Results A missense mutation of TGC (Cys) to GGC(Gly)atcodon634inexon11oftheRETproto oncogenewasdetectedinthe2patientswithMEN Ⅱa diagnosed by pathology. Genetic screening of the RET proto oncogene identified same mutation in other 4 family members, in which ultrasonography examination revealed 2 members with thyroid neoplasms, one with neoplasms of thyroid and both adrenal glands, and one 15 year old mutation carrier had no clinical manifestation of the disease. Conclusion Analysis ofRETgeneidentifiesaTGC to GGC mutation at codon 634 in a family with MEN Ⅱa. Direct DNA sequencing analysis can diagnose MEN Ⅱa at gene level. The molecular genetic analysis is helpful in identifying the family members at risk of MEN Ⅱa and in making clinical management of the disease.

目的 检测一个Ⅱa型多内分泌腺瘤 (MEN Ⅱa)病家系中RET原癌基因的突变情况。方法 提取 9名家系成员外周血基因组DNA ,对RET原癌基因第 10和第 11外显子进行聚合酶链反应 (PCR) ,PCR产物进行直接DNA测序。结果 家系中 2例经病理确诊的患者存在RET原癌基因第 11外显子Cys(TGC) 63 4Gly(GGC)错义突变 ,另筛查出 4名成员为该突变基因携带者 ,其中 2例经B超检查发现甲状腺有新生物 ,1例双侧甲状腺及双侧肾上腺有新生物 ,1例 15岁的突变基因携带者无临床表现。结论 对MEN Ⅱa家系的基因分析证实RET原癌基因第 11外显子在密码子 63 4存在TGC→GGC突变 ,对MEN Ⅱa能在基因水平作出诊断。对MEN Ⅱa家系成员作分子遗传学分析有助于判断患MEN Ⅱa的危险性和临床上作进一步处理

 
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