Mutation Research/Mutation Research Genomics最新文献_第2页

Polymorphisms of the CYP1A1 and GSTM1 genes in relation to individual susceptibility to lung carcinoma in Chinese population CYP1A1和GSTM1基因多态性与中国人群肺癌个体易感性的关系

Mutation Research/Mutation Research Genomics Pub Date : 2001-06-01 DOI: 10.1016/S1383-5726(01)00011-5

Senqing Chen , Kaixian Xue , Lin Xu , Guojian Ma , Jianzhong Wu

{"title":"Polymorphisms of the CYP1A1 and GSTM1 genes in relation to individual susceptibility to lung carcinoma in Chinese population","authors":"Senqing Chen , Kaixian Xue , Lin Xu , Guojian Ma , Jianzhong Wu","doi":"10.1016/S1383-5726(01)00011-5","DOIUrl":"10.1016/S1383-5726(01)00011-5","url":null,"abstract":"<div>Cytochrome P450 1A1 (CYP1A1) and glutathione S-transferase M1 (GSTM1) metabolize tobacco-related carcinogens. To investigate the prevalence of CYP1A1 and GSTM1, and their association with increased risk of lung carcinoma in Chinese, allele-specific PCR and multiplex PCR technique were employed to identify the genotypes of CYP1A1 and GSTM1 in a case–control study of 106 lung carcinoma patients with histopathological diagnosis and 106 matched controls free of malignancy in Jiangsu Province, China. Logistic regression analysis was performed to calculate the odds ratio (OR) and 95% confidence intervals (CI). The results showed that individuals with GSTM1 null, and the combined GSTM1 null/CYP1A1 Ile/Val or GSTM1 null/CYP1A1 Val/Val had an elevated risk of lung carcinoma, with the OR, 1.92 (P=0.02; CI, 1.07–3.46), 3.27 (P=0.01; CI, 1.23–8.84) and 9.33 (P=0.04; CI, 1.01–217.42), respectively. Light smokers (<30 pack-years) carrying GSTM1 null genotype were shown to have the increased risk to lung carcinoma (OR=3.47; CI, 1.13–7.57). Our study suggested that the null GSTM1 genotype, independently or in combined with at least one Val allele of CYP1A1, might affect the genetic susceptibility for lung carcinoma in Chinese population.</div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2001-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(01)00011-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"56449612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 93

Frequency and distribution in three ethnic populations of single nucleotide polymorphisms in the MICA gene MICA基因单核苷酸多态性在三个民族人群中的频率和分布

Mutation Research/Mutation Research Genomics Pub Date : 2001-01-01 DOI: 10.1016/S1383-5726(00)00006-6

Edith Powell, Li Shi, Paul Drummond, Edward J. Smith

{"title":"Frequency and distribution in three ethnic populations of single nucleotide polymorphisms in the MICA gene","authors":"Edith Powell, Li Shi, Paul Drummond, Edward J. Smith","doi":"10.1016/S1383-5726(00)00006-6","DOIUrl":"10.1016/S1383-5726(00)00006-6","url":null,"abstract":"<div>The Homo sapiens major histocompatibility complex (MHC) class 1 chain related gene A (MICA) was scanned for novel single nucleotide polymorphisms (SNPs) using a panel of DNA samples from African-, Japanese- and Mexican-Americans. Overlapping primer-pairs were used to amplify products in the size range of 300 to 400bp that were sequenced and scanned for SNPs using Phred, Phrap, Polyphred and Consed sequence analysis programs. A total of 16 SNPs were detected, six of which represent new variant nucleotides in the Homo sapiens MICA gene. Three of the variants also represent amino acid changes in the MICA protein. Differences among the three ethnic panels in the frequency of the variant nucleotides observed were inconsistent, but significant for seven of the SNPs detected. Though a small sample size, this study represents the first multi-population based analysis of the frequency and distribution of SNPs in the MICA gene, a locus that may be essential in the antigenic recognition by γδ T cells.</div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(00)00006-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"56449539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

An improved real time PCR method for simultaneous detection of C282Y and H63D mutations in the HFE gene associated with hereditary hemochromatosis 同时检测遗传性血色素沉着病相关HFE基因C282Y和H63D突变的改进实时PCR方法

Mutation Research/Mutation Research Genomics Pub Date : 2001-01-01 DOI: 10.1016/S1383-5726(00)00003-0

D.K Walburger, I.A Afonina, R Wydro

{"title":"An improved real time PCR method for simultaneous detection of C282Y and H63D mutations in the HFE gene associated with hereditary hemochromatosis","authors":"D.K Walburger, I.A Afonina, R Wydro","doi":"10.1016/S1383-5726(00)00003-0","DOIUrl":"10.1016/S1383-5726(00)00003-0","url":null,"abstract":"<div>HFE-linked hereditary hemochromatosis (HH) is one of the most common inherited diseases among individuals of Northern European ancestry. Two sites of point mutations in the HFE gene — C282Y and H63D — are associated with greater than 90% of HH cases. We have developed a sensitive real time PCR (TaqMan) 5′-nuclease assay for single nucleotide polymorphism (SNP) detection using novel DNA chemistry, and successfully applied this method to detect these mutations. Fluorogenic PCR probes, chemically modified with a minor groove binding agent to increase duplex stability, were used in single and multiplex probe closed tube formats. The probes were tested in two commercially available thermocycling fluorimeters (the Light Cycler™ and the ABI Prism 7700™). Comparison of the results obtained from the analysis of 43 samples showed no discrepancies between our 5′ nuclease assay and the restriction length polymorphism analysis, which is routinely used in hospitals. The reported real time PCR technology is ideal for the clinical setting as it is sensitive, eliminates the labor and supply costs of post-PCR steps, reduces the risk of crossover contamination, minimizes sources of error, and can be fully automated.</div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(00)00003-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"56449505","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 37

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa 三种新的突变导致意大利x连锁视网膜色素变性家族中RP2基因内的蛋白截短

Mutation Research/Mutation Research Genomics Pub Date : 2001-01-01 DOI: 10.1016/S1383-5726(00)00007-8

Alessandro De Luca , Isabella Torrente , Massimo Mangino , Rita Danesi , Bruno Dallapiccola , Giuseppe Novelli

{"title":"Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa","authors":"Alessandro De Luca , Isabella Torrente , Massimo Mangino , Rita Danesi , Bruno Dallapiccola , Giuseppe Novelli","doi":"10.1016/S1383-5726(00)00007-8","DOIUrl":"10.1016/S1383-5726(00)00007-8","url":null,"abstract":"<div>X-linked retinitis pigmentosa (XLRP) results from mutations in a number of loci, including RP2 at Xp11.3, and RP3 at Xp21.1. RP2 and RP3 genes have been identified by positional cloning. RP2 mutations are found in about 10% of XLRP patients. We performed a mutational screening of RP2 gene in patients belonging to seven unrelated families in linkage with the RP2 locus. SSCP analysis detected three conformation variants, within exon 2 and 3. Direct sequencing of exon 2, disclosed a G→A transition at nucleotide 449 (W150X), and a G→T transversion in position 547 (E183X). Sequence analysis of exon 3 variant revealed an insertion (853/854insG), leading to a frameshift. In this patient, we detected an additional sequence alteration (A→G at nucleotide 848, E283G). Each mutation was co-segregating with the disease in the affected family members available for the study. These mutations are expected to introduce a stop codon within the RP2 coding sequence probably resulting in a truncated or unstable protein.</div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(00)00007-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"56449556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6

Common polymorphisms and somatic mutations in human base excision repair genes in ovarian and endometrial cancers 卵巢癌和子宫内膜癌中人类基底切除修复基因的常见多态性和体细胞突变

Mutation Research/Mutation Research Genomics Pub Date : 2001-01-01 DOI: 10.1016/S1383-5726(00)00002-9

Maura Pieretti , Nada H. Khattar , Simon A. Smith

{"title":"Common polymorphisms and somatic mutations in human base excision repair genes in ovarian and endometrial cancers","authors":"Maura Pieretti , Nada H. Khattar , Simon A. Smith","doi":"10.1016/S1383-5726(00)00002-9","DOIUrl":"10.1016/S1383-5726(00)00002-9","url":null,"abstract":"<div>The purpose of this study was to determine whether the human APEX and OGG1 genes, encoding proteins important in base excision repair (BER) of DNA, contain nucleotide sequence polymorphisms or are mutated somatically in tumors from women diagnosed with ovarian or endometrial cancer. Based upon the analysis of germline DNA from 83 individuals, 63 with ovarian cancer and 20 with endometrial cancer, we found two missense polymorphisms in APEX (Q51H and D148E) and two missense (A3P and S326C) and one intronic (Exon 5–15 bp) polymorphism in OGG1. The frequencies of the various alleles (in the ovarian and endometrial cancer patients combined) were 4.8% for 51-His and 56.2% for 148-Glu in APEX, and 1.0% for 3-Pro and 20.0% for 326-Cys in OGG1. Somatic mutations in APEX (P112L, W188X and R237C) were identified in three of 20 endometrial tumors, but no mutations were identified in APEX in 43 ovarian tumors, or in OGG1 at either tumor site. Given the crucial role of the APEX and OGG1 proteins in BER of oxidative DNA damage, the identified polymorphisms are good candidates for genetic epidemiologic studies of cancer susceptibility, while the finding that three of 20 (15%) endometrial tumors have somatic mutations in APEX suggests that inactivation of the BER pathway is important for the development of endometrial cancer in at least a subset of cases.</div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(00)00002-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"56449493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 47

Identification of genetic variants in the human thromboxane synthase gene (CYP5A1) 人血栓素合成酶基因CYP5A1基因变异的鉴定

Mutation Research/Mutation Research Genomics Pub Date : 2001-01-01 DOI: 10.1016/S1383-5726(00)00004-2

Dany Chevalier , Jean-Marc Lo-Guidice , Elodie Sergent , Delphine Allorge , Hervé Debuysère , Nicolas Ferrari , Christian Libersa , Michel Lhermitte , Franck Broly

{"title":"Identification of genetic variants in the human thromboxane synthase gene (CYP5A1)","authors":"Dany Chevalier , Jean-Marc Lo-Guidice , Elodie Sergent , Delphine Allorge , Hervé Debuysère , Nicolas Ferrari , Christian Libersa , Michel Lhermitte , Franck Broly","doi":"10.1016/S1383-5726(00)00004-2","DOIUrl":"10.1016/S1383-5726(00)00004-2","url":null,"abstract":"<div>Thromboxane synthase (CYP5A1) catalyzes the conversion of prostaglandin H2 to thromboxane A2, a potent mediator of platelet aggregation, vasoconstriction and bronchoconstriction. It has been implicated in the patho-physiological process of a variety of diseases, such as atherosclerosis, myocardial infarction, stroke and asthma. On the basis of the hypothesis that variations of the CYP5A1 gene may play an important role in human diseases, we performed a screening for variations in the human CYP5A1 gene sequence. We examined genomic DNA from 200 individuals, for mutations in the promoter region, the protein encoding sequences and the 3′-untranslated region of the CYP5A1. Eleven polymorphisms have been identified in the CYP5A1 gene including eight missense mutations R61H, D161E, N246S, L357V, Q417E, E450K, T451N and R466Q. This is the first report of genetic variants in the human CYP5A1 altering the protein sequence. The effect of these variants on the metabolic activity of CYP5A1 remains to be further evaluated.</div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(00)00004-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"56449517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 28

A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers–Danlos syndrome type VI ehers - danlos综合征VI型患者外显子14的无义密码子减少赖基羟化酶mRNA并导致异常RNA剪接

Mutation Research/Mutation Research Genomics Pub Date : 2000-02-01 DOI: 10.1016/S1383-5726(99)00012-6

Birgitta Pousi , Jari Heikkinen , Jukka Schröter , Michael Pope , Raili Myllylä

{"title":"A nonsense codon of exon 14 reduces lysyl hydroxylase mRNA and leads to aberrant RNA splicing in a patient with Ehlers–Danlos syndrome type VI","authors":"Birgitta Pousi , Jari Heikkinen , Jukka Schröter , Michael Pope , Raili Myllylä","doi":"10.1016/S1383-5726(99)00012-6","DOIUrl":"10.1016/S1383-5726(99)00012-6","url":null,"abstract":"<div>Ehlers–Danlos syndrome type VI (EDSVI) is an autosomal recessively inherited connective tissue disease, characterized by kyphoscoliosis, muscular hypotonia and ocular manifestations. The cause of the syndrome is a deficiency in the activity of lysyl hydroxylase (LH), one of the enzymes involved in the post-translational modification of collagens. We describe here an unusual compound heterozygote British patient with EDSVI. Our investigations indicate that a maternally inherited nonsense mutation (Y511X) in exon 14 of the LH gene (PLOD1) results in a reduction of the mRNA level as well as a skipping of exon 14 sequences in the mRNA that produces a protein shortened by 38 amino acids. The transcription of the other allele of the LH gene is considerably reduced from the normal for reasons that are not yet known. As a consequence, the LH activity of the skin fibroblasts of the patient is markedly reduced.</div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(99)00012-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21580836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 10

Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease 韩国常染色体显性多囊肾病患者PKD1基因的新突变

Mutation Research/Mutation Research Genomics Pub Date : 2000-02-01 DOI: 10.1016/S1383-5726(99)00013-8

Un Kyung Kim , Dong Kyu Jin , Curie Ahn , Jae Hyun Shin , Kyu Beck Lee , Sung Han Kim , Jae Jin Chae , Dae Yeon Hwang , Jung Geon Lee , Yong Namkoong , Chung Choo Lee

{"title":"Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease","authors":"Un Kyung Kim , Dong Kyu Jin , Curie Ahn , Jae Hyun Shin , Kyu Beck Lee , Sung Han Kim , Jae Jin Chae , Dae Yeon Hwang , Jung Geon Lee , Yong Namkoong , Chung Choo Lee","doi":"10.1016/S1383-5726(99)00013-8","DOIUrl":"10.1016/S1383-5726(99)00013-8","url":null,"abstract":"<div>The gene for the most common form of autosomal dominant polycystic kidney disease (ADPKD), PKD1, has recently been characterized and shown to encode an integral membrane protein, polycystin-1, which is involved in cell–cell and cell–matrix interactions. Until now, approximately 30 mutations of the 3′ single copy region of the PKD1 gene have been reported in European and American populations. However, there is no report of mutations in Asian populations. Using the polymerase chain reaction and single-strand conformation polymorphism (SSCP) analysis, 91 Korean patients with ADPKD were screened for mutation in the 3′ single copy region of the PKD1 gene. As a result, we have identified and characterized six mutations: three frameshift mutations (11548del8bp, 11674insG and 12722delT), a nonsense mutation (Q4010X), and two missense mutations (R3752W and D3814N). Five mutations except for Q4010X are reported here for the first time. Our findings also indicate that many different mutations are likely to be responsible for ADPKD in the Korean population. The detection of additional disease-causing PKD1 mutations will help in identifying the location of the important functional regions of polycystin-1 and help us to better understand the pathophysiology of ADPKD.</div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(99)00013-8","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21580837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 14

Localization, sequence analysis, and ethnic distribution of a 96-bp insertion in the promoter of the human CYP2E1 gene 人类CYP2E1基因启动子中96 bp插入片段的定位、序列分析和种族分布

Mutation Research/Mutation Research Genomics Pub Date : 2000-02-01 DOI: 10.1016/S1383-5726(99)00009-6

Ellen Fritsche, Gary S Pittman, Douglas A Bell

引用次数: 38

Use of archival tissue in epidemiologic studies: collection procedures and assessment of potential sources of bias 流行病学研究中档案组织的使用:收集程序和潜在偏倚来源的评估

Mutation Research/Mutation Research Genomics Pub Date : 2000-02-01 DOI: 10.1016/S1383-5726(99)00010-2

Martha L Slattery , Sandra L Edwards , Leslie Palmer , Karen Curtin , Judy Morse , Kristin Anderson , Wade Samowitz

{"title":"Use of archival tissue in epidemiologic studies: collection procedures and assessment of potential sources of bias","authors":"Martha L Slattery , Sandra L Edwards , Leslie Palmer , Karen Curtin , Judy Morse , Kristin Anderson , Wade Samowitz","doi":"10.1016/S1383-5726(99)00010-2","DOIUrl":"10.1016/S1383-5726(99)00010-2","url":null,"abstract":"<div>Collection and analyses of archival tumor tissue as a means to increase our understanding of disease pathways is becoming an important avenue of epidemiologic research. In this paper, we present methods of collection and processing of archival tissue and assess the population characteristics of those for whom we were able to and unable to obtain tumor DNA. Cases of colon cancer diagnosed between September, 1991 and October, 1994 living in Utah, Northern California, or the Twin Cities Metropolitan area of Minnesota were targeted for this study. Of the 2477 people for whom we had permission to obtain tumor blocks, we were able to collect blocks and extract DNA for 2117 (85.5%). There were no differences in age, tumor site, or diet and lifestyle characteristics between those with and without DNA extracted. However, we were less likely to be able to extract DNA if the case was diagnosed at a more advanced disease stage or at the earliest disease. Potential bias from exclusion of those with the most advanced disease stage is discussed.</div>","PeriodicalId":100939,"journal":{"name":"Mutation Research/Mutation Research Genomics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2000-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1383-5726(99)00010-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21580834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 38