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培育生物产业，发展绿色经济——第五届中国生物产业大会·2011基因科学与产业发展论坛

作者： Helene Blanche Howard Cann Lars Bolund Karsten Kristiansen fondation jean dausset Centre d’Etude du Polymorphisme Humain(CEPH)ParisFrance BGI-Shenzhen Shenzhen 518083China Institute of Human Genetics University of AarhusAarhusDenmark Department of Biology University of CopenhagenCopenhagenDenmark

Here we integrate the de novo assembly of an Asian and an African genome with the NCBI reference human genome,as a step toward constructing the human *** identified～5 Mb of novel sequences not present in the reference genome in each of these *** novel sequences are individual or population specific,as revealed by their comparison to all available human DNA sequence and by PCR validation using the human genome diversity cell line *** found novel sequences present in patterns consistent with known human migration ***-species conservation analysis of predicted genes indicated that the novel sequences contain potentially functional coding *** estimate that a complete human pan-genome would contain～19-40 Mb of novel sequence not present in the extant reference *** extensive amount of novel sequence contributing to the genetic variation of the pan-genome indicates the importance of using complete genome sequencing and de novo assembly.

关键词： red Building the sequence map of the human pan-genome

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CARD15/NOD2基因不是坏死性小肠结肠炎的易患因素

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世界核心医学期刊文摘（胃肠病学分册） 2006年第1期2卷 10-10页

作者： Habib Z. Arnaud B. PascalD.L. 程欣 fondation jean dausset-ceph27 Rue Juliette Dodu 75010 Paris France Dr.

Multiple factors are incriminated in the etiopathogeny of necrotizing enterocolitis (NEC) in premature infants, including oral feeding, vascular abnormalities, increase in pro- inflammatory cytokines, and inappropriate response of the intestinal barrier to bacterial microflora. CARD15/NOD2 is a gene recently recognized as important in the innate response to gut flora and is involved in Crohn’ s disease susceptibility. We thus tested its putative role in NEC. Ten children (seven boys and three girls) suffering from NEC who were admitted to Robert Debré hospital between 1999 and 2002 were retrospectively included in the study. Genetic screening of the 11 constant exons and the exon- intron junctions of CARD15/NOD2 by direct sequencing revealed no novel mutations of that gene in NEC patients. Furthermore, the three main mutations of CARD15/NOD2 (R702W, G908R, and 1007fs) associated with susceptibility to Crohn’ s disease were not found in these patients. Our results suggest that CARD15/NOD2 does not play a major role in genetic susceptibility to NEC.

关键词： CARD15/NOD2 肠道黏膜屏障克罗恩病促炎症细胞因子免疫反应易患性血管畸形直接测序

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维普期刊数据库

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肝细胞腺瘤相关的基因型-表现型:新的分类及与HCC的关系

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世界核心医学期刊文摘（胃肠病学分册） 2006年第9期2卷 47-47页

作者： Zucman-Rossi J. jeannot E. Van Nhieu J.T. 陈云茹 Inserm U674 IUH Paris Saint-LouisCEPH Fondation Jean Dausset27 rue Juliette Dodu75010 ParisFrance

Hepatocellular adenomas are benign tumors that can be difficult to *** refine their classification,we performed a comprehensive analysis of their genetic,pathological,and clinical features.A multicentric series of 96 liver tumors with a firm or possible diagnosis of hepatocellular adenoma was reviewed by liver *** all cases,the genes coding for hepatocyte nuclear factor 1α(HNF1α)and β-catenin were *** tumors were mutated in both HNF1αand β-catenin enabling tumors to be classified into 3 groups,according to *** with HNF1αmutations formed the most important group of adenomas(44 cases).They were phenotypically characterized by marked steatosis(P < 10-4),lack of cytological abnormalities(P < 10-6),and no inflammatory infiltrates(P < 10-4).In contrast,the group of tumors defined by β-catenin activation included 13 lesions with frequent cytological abnormalities and pseudo-glandular formation(P < 10-5).The third group of tumors without mutation was divided into two subgroups based on the presence of inflammatory *** subgroup of tumors consisting of 17 inflammatory lesions,resembled telangiectatic focal nodular hyperplasias,with frequent cytological abnormalities(P = 10-3),ductular reaction(P < 10-2),and dystrophic vessels(P =.02).In this classification,hepatocellular carcinoma associated with adenoma or borderline lesions between carcinoma and adenoma is found in 46%of the β-catenin-mutated tumors whereas they are never observed in inflammatory lesions and are rarely found in HNF1αmutated tumors(P =.004).In conclusion,the molecular and pathological classification of hepatocellular adenomas permits the identification of strong genotype-phenotype correlations and suggests that adenomas with β-catenin activation have a higher risk of malignant transformation.

关键词：肝细胞腺瘤基因型表现型分类 β-连环蛋白 HCC α基因突变良性肿瘤

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Genetic factors for differentiated thyroid cancer in French Polynesia:new candidate loci

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Precision Clinical Medicine 2023年第2期6卷 57-66页

作者： Monia Zidane Marc Haber Thérèse Truong Frédérique Rachédi Catherine Ory Sylvie Chevillard Hélène Blanché Robert Olaso Anne Boland Éric Conte Mojgan Karimi Yan Ren Constance Xhaard Vincent Souchard Jacques Gardon Marc Taquet André Bouville jean-François Deleuze Vladimir Drozdovitch Florent de Vathaire jean-Baptiste Cazier University Paris-Saclay UVSQInsermGustave RoussyCESPTeam"Radiations Epidemiology"Villejuif 94805France Centre for Computational Biology University of BirminghamBirmingham B152TTUK Institute of Cancer and Genomic Sciences University of BirminghamBirmingham B152TTUK University Paris-Saclay UVSQInsermGustave RoussyCESPTeam"Exposome and Heredity"Villejuif 94805France Endocrinology Unit Territorial Hospital TaaoneF-98713PapeeteTahiti 98713French Polynesia CEA Laboratoire de Cancérologie FondamentaleInstitut de Biologie François JacobiRCMSREITLaboratoire de Cancérologie Expérimentale(LCE)UniversitéParis-SaclayFontenay aux Roses 92265France fondation jean dausset-Centre d’Etude du Polymorphisme Humain Paris 75010France UniversitéParis-Saclay CEACentre National de Recherche en Génomique HumaineEvry 91057France U.S.R.2003(CNRS/UPF) Faa’aTahiti 98702France University of Lorraine INSERM CIC 1433Nancy CHRUINSERM U1116Nancy 54500France Hydrosciences Montpellier Research Institute for DevelopmentCNRSUniversity of MontpellierMontpellier 62307France Research Institute for Development Center IRD on TahitiArueTahiti 98713French Polynesia National Cancer Institute(retired) BethesdaMD 20892USA Division of Cancer Epidemiology and Genetics National Cancer InstituteNIHDHHSBethesdaMD 20892USA

Background:Populations of French Polynesia(FP),where France performed atmospheric tests between 1966 and 1974,experience a high incidence of differentiated thyroid cancer(DTC).However,up to now,no sufficiently large study of DTC genetic factors in this population has been performed to reach definitive *** research aimed to analyze the genetic factors of DTC risk among the native FP ***:We analyzed more than 300000 single nucleotide polymorphisms(SNPs)genotyped in 283 DTC cases and 418 matched controls born in FP,most being younger than 15 years old at the time of the first nuclear *** analyzed the genetic profile of our cohort to identify population *** then completed a genome-wide analysis study on the whole ***:We identified a specific genetic structure in the FP population reflecting admixture from Asian and European *** identified three regions associated with increased DTC risk at 6q24.3,10p12.2,and *** lead SNPs at these loci showed respective p-values of 1.66×10^(−7),2.39×10^(−7),and 7.19×10^(−7) and corresponding odds ratios of 2.02,1.89,and ***:Our study results suggest a role of the loci 6q24.3,10p12.2 and 17q21.32 in DTC ***,a whole genome sequencing approach would be better suited to characterize these factors than genotyping with microarray chip designed for the Caucasian ***,the functional impact of these three new loci needs to be further explored and validated.

关键词： differentiated thyroid cancer population genetics genetic susceptibility

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