2009 Vienna - European Society of Human Genetics

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Evolutionary and population genetics, and Genetic epidemiology an approach for genome-wide interaction analysis that overcomes the computational issue by prioritizing SNPs for interaction analysis using a priori information. Sources of information can be biological relevance (common pathway, gene location ...) or statistical evidence (single marker association at a moderate level). We present a respective software product that implements different approaches to joint analysis of multiple SNPs (full modelling of marginal and interaction effects as well as explicit testing for association with a log-linear model). Moreover, link to databases with the relevant biological information is provided. We also present the results from an application to a GWAS. P10.37 Hereditary Nervous system Diseases in Rostov Region N. A. D. Z. Vetrova, N. Vetrova, S. Amelina; Rostov Medical Institute, Rostov, Russian Federation. Research of Hereditary Nervous System Diseases is important for the following reasons: their prevalence among neurological disorders is high. Many patients develop mental and physical handicap leading to severe disability. The population of eight districts was examined to access prevalence of hereditary nervous system disorders in Rostov Region. Data collection and processing were done according to the protocol of Genetic Epidemiology Laboratory of Medical Centre in Moscow. The neuromuscular disorders in Rostov Region’ population composes 30.62% of all hereditary nervous system diseases. Their prevalence is 19.94 per 100,000 population. Hereditary Sensory-Motor Neuropathy was prevailing not only in the group of neuromuscular diseases, but also in hereditary nervous system disorders group. Total of 28 cases were identified in 15 families. The prevalence was 8.72 per 100,000 population. DNA testing was performed to identify dup mutation in gene RMR22 in all patients. This study identified 13 cases of Duchene/Becker Muscular Dystrophy in 10 families. Prevalence was 8,10 per 100,000 male population. DNA testing was performed to identify mutations in gene DMD in 9 families. Other common disorders such as oligophrenia, microcephaly and congenital hydrocephalus comprise 47.6 % of all hereditary nervous system diseases in Rostov Region; prevalence was 30,85 per 100,000 population. Hereditary Nervous System Diseases, Duchenne/Becker Muscular Dystrophy, Neurofibromatosis and Tuberous Sclerosis are prevaling disorders among Rostov Region’s population. All this diseases are single gene disorders, which is also true for Russian Federation neuropathology spectrum. P10.38 confounding factors in testing parent-of-origin effects: illustration with Hirschsprung disease genetics. A. Jannot 1,2 , J. Amiel 2,3 , A. Pelet 2,3 , S. Lyonnet 2,3 , F. Clerget-Darpoux 1,4 ; 1 INSERM U535, Villejuif Cedex, France, 2 INSERM U781, Paris, France, 3 Université Paris Descartes, Faculté de médecine, Paris, France, 4 Université Paris -sud, Villejuif, France. Parent-of-origin effect may be tested on affected sib pairs or trio family data by comparing paternal and maternal transmission to the affected cases. However, the conclusion of these tests is not robust to non random parental mating. In particular, we demonstrate, through theoretical modelling, that reduced fertility and spermatic fitness can mimic a parent-of-origin effect both for sib pairs and case-parents trios. In order to distinguish between true parent-of-origin effect and bias resulting from reduced fertility, we propose here a method which combines the information on trios and sib-pairs. We illustrate our findings with the International Hirschsprung disease (HSCR) Consortium data. RET is the major HSCR locus and a parent-of-origin effect has been suspected. Both the strong sex-ratio in favour of females combined with a poor prognosis and the involvement of RET in spermatogenesis have led to challenge a parent-of-origin effect. Indeed, by combining the results of affected sib-pairs and trios, we show that a reduced fertility is the most likely mechanism to explain the observed allele sharing distortion in HSCR. P10.39 Worldwide HLA class i and ii Diversity N. M. Qutob, A. Manica, F. Balloux; Department of Zoology, University of Cambridge, Cambridge, United Kingdom. The Human Leukocyte Antigen (HLA) is a key component of the immune system of vertebrate as it is responsible for the recognition and presentation of antigens and comprises the most polymorphic genes in vertebrates. Numerous hypotheses have been proposed to explain how this diversity could be maintained. One such hypothesis (called Pathogen-Driven Balancing Selection) states that different alleles provide protection against different pathogens. A prediction under this hypothesis is that populations exposed to a wider variety of diseases should be characterised by higher diversity at their HLA genes. This prediction has recently received some support in humans when it was shown that once past demography was accounted for, there is a positive correlation between HLA class I within-population genetic diversity and the number of endemic diseases found in that area. My work involves compiling a large database of HLA allele frequencies from human populations worldwide, including class I and II genes. One limitation of previous work was that a very simple measure of genetic diversity was computed, and the different alleles were simply considered as identical or different. Thus, my work involves using more refined measures of genetic diversity and focuses on the residues forming the Peptide Binding Region (PBR), as these are the expected target of natural selection. The work indicates that the geographic apportionment of HLA diversity is the product of both past demography and complex selective pressures. It also highlights the complexity of the selective process, with the likely involvement of coevolution with KIR genes and marks differences between different classes of genes. P10.40 HLA polymorphisms in são tomé and Príncipe Archipelago (West-Africa) N. Saldanha, A. Lemos, A. Brehm, C. Spínola, H. Spínola; Human Genetics Laboratory, Funchal, Portugal. HLA-A, HLA-B, and HLA-DRB1 loci polymorphisms were high-resolution typed through sequence based typing in Forros and Angolares ethnic groups from São Tomé and Príncipe archipelago (West-Africa). The most frequent HLA-A alleles found in Forros were A*0201, A*2301 and A*6802, with 13% each. With a similar frequency (14%), HLA-A*6802 was also a very common allele in Angolares, followed by A*2301 (9.2%). HLA-B*5301 was the most frequent HLA-B allele in both Forros (19%) and Angolares (24%). The most recurrent HLA-DRB1 alleles in São Tomé and Príncipe population were HLA-DRB1*0301 (12% in Forros and 18% in Angolares) and HLA-DRB1*1503 (11% in both Forros and Angolares). Haplotypes A*6802-B*0702-DRB1*1301 in Forros (3%) and A*6802-B*5301-DRB1*0804 in Angolares (4.7%) were the most common three loci found in each group. Phylogenetic analysis reveals the West Coast of Africa as being the place of origin of São Tomé and Príncipe main genetic pool, specifically the area comprised between Guinea-Bissau and the Gulf of Guinea. Forros and Angolares systematically cluster together in phylogenetic analysis and are not statistically different, making the hypothesis that Angolares are descendents of slaves who escaped from plantations and kept themselves resistant to miscegenation plausible. P10.41 Genomic runs of homozygosity: population history and disease R. McQuillan1 , M. Kirin1 , C. S. Franklin1 , V. Vitart2 , P. McKeigue1 , A. F. Wright2 , H. Campbell1 , J. F. Wilson1 ; 1 2 University of Edinburgh, Edinburgh, United Kingdom, Medical Research Council Human Genetics Unit, Edinburgh, United Kingdom. Runs of homozygosity (ROH), resulting from the inheritance from both parents of identical haplotypes, are abundant in the human genome. ROH length is determined partly by the number of generations since the common ancestor: offspring of cousin matings have long ROH, while the numerous shorter ROH reflect shared ancestry tens and hundreds of generations ago. In studies of European populations we show that F , a multipoint estimate of individual autozygosity derived roh from genomic ROH, distinguishes clearly between subpopulations classified in terms of demographic history and correlates strongly with pedigree-derived inbreeding coefficients. In a global population da- 0
Evolutionary and population genetics, and Genetic epidemiology taset, analysis of ROH allows categorisation of individuals into four major groups, inferred to have (a) parental relatedness in the last 150 years (many south and west Asians), (b) shared parental ancestry arising hundreds to thousands of years ago through population isolation and restricted effective population size (Ne), but little recent inbreeding (Oceanians, African hunter-gatherers, some European and south Asian isolates), (c) both ancient and recent parental relatedness (Native Americans), and (d) only the background level of shared ancestry relating to continental Ne (east Asians, urban Europeans; African agriculturalists). Long runs of homozygosity are therefore a widespread and underappreciated characteristic of our genomes which record past consanguinity and population isolation and provide a unique record of individual demographic history. Individual ROH measures also allow quantification of the disease risk arising from polygenic recessive effects. We present preliminary data from a survey of the effects of ROH on quantitative disease-related traits and disease risk. P10.42 Detection and quantitation of mu opioid receptor splice variants mRNA in peripheral blood lymphocytes of opioid addicts N. Vousooghi 1 , A. Goodarzi 2 , F. Roushanzamir 1 , T. Sedaghati 2 , M. Zarrindast 3 , M. Noori-Daloii 4 ; 1 Shahid Beheshti Medical University, Tehran, Islamic Republic of Iran, 2 Sina cellular and molecular research center, Tehran, Islamic Republic of Iran, 3 Institute for Cognitive Sciences Studies, Tehran, Islamic Republic of Iran, 4 Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran. Aims: In the present study we have investigated the presence and changes of PBLs mRNA expression of four human mu opioid receptor splice variants (hMOR-1A, hMOR-1O, hMOR-1X, and hMOR-1Y) in the opioid addiction process to see whether they can serve as peripheral markers. Design: Splice variants mRNA expression in PBLs was detected and measured by real-time PCR using SYBR green dye. Participants: Four groups, each comprising of 30 male individuals were included: opioid addicts, methadone maintained patients, long-term abstinent former opioid addicts, and non-addicted control subjects. Findings: hMOR-1A and hMOR-1O are expressed in PBLs. However, we did not observe PBLs expression of hMOR-1X and hMOR-1Y. The hMOR-1A expression was reduced in abstinents (reaching 0.33 the amount of control group), up-regulated by the factor 1.94 in methadone maintained patients and not statistically different in addicted group in comparison to controls. The hMOR-1O expression was significantly reduced in abstinent and methadone maintained subjects reaching 0.39 and 0.53 the amount of control group, respectively. However, addicted group was not statistically different from controls. Conclusions: Deficiency in expression of hMOR-1A and hMOR-1O splice variants measured by a suggested peripheral marker, may be a risk factor making individuals susceptible for drug addiction. This deficiency reaches to nearly normal levels in opioid addicts. However, from therapeutic point of view, we have no explanation for hMOR-1A mRNA up-regulation and hMOR-1O mRNA down-regulation in methadone maintained subjects at the moment. keywords: human, lymphocytes, mRNA expression, mu opioid receptor splice variants, opioids P10.43 coevolution of the repeated glutamine and proline codons in the mammalian Huntington disease gene D. Savic-Pavicevic1 , D. Krndija2 , G. Brajuskovic1 , S. Romac1 ; 1 2 Faculty of Biology, Belgrade, Serbia, Department of Internal Medicine I, Ulm, Germany. The human Huntington disease (HD) gene contains a CAG microsatellite encoding a polyglutamine tract, followed by cryptically simple regions encoding a proline reach region. The HD gene is evolutionary conserved between Drosophila and humans, but repeated CAG codons are seen only in the vertebrates, while repeated CGG codons are present only in the mammals. To improve understanding of the evolution of the HD gene repeated codons, we sequenced that part of the gene in 17 mammalian species. The analysis of the obtained nucleotide and supposed protein sequences, as well as database sequences of non-mammalian species, led to a model that predicts the coevolution of repeated glutamine and proline codons in the mammalian HD gene. The coevolution probably resulted from interplay between mu- tational processes, such as replication slippage and point mutations, and selection, such as purifying selection and selection on the reading frames in which tandemly repeated codons can accumulate. The balance between these processes significantly differ in two regions: replication slippage and strong purifying selection probably were the main force for the evolution of the repeated glutamine codons, while synonymous and non-synonymous point mutation and weaker purifying selection drove evolution of repeated proline codons. Analyzed region of the HD gene is an example for rapid evolutionary change in an evolutionary ancient gene, leading to crating homopeptide regions, which could assign huntigtin protein with some new functions. P10.44 the estimation the age of the founder mutation causing autosomal recessive hypotrichosis in chuvash and mari Republics of Russia E. A. Bliznetz 1 , N. N. Vasserman 1 , R. A. Zinchenko 1 , E. I. Rogaev 2 , A. V. Polyakov 1 ; 1 Research Centre for Medical Genetics, Moscow, Russian Federation, 2 Brudnick Neuropsychiatric Research Institute, Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, United States. Chuvash and Mari populations of Russia is of great interest, as three endemic autosomal recessive diseases has been recorded with high frequency in these regions: erythrocytosis (OMIM#263400), osteopetrosis (OMIM#259700), and hypotrichosis (OMIM#604379). The presence of such genetic differentiation in the populations presumably results from the long reproductive isolation of the populations and the genetic drift. It was established the founder mutations caused this conditions - Arg200Trp in VHL gene, c.807+5G>A in TCIRG1 gene and ex 4 del in LIPH gene correspondingly. Recently, the age of the mutation for erythrocytosis and osteopetrosis in Chuvashians calculated and was average 1,250 and 890 years. In this work to estimate the age of the founder mutation for hypotrichosis in Chuvash and Mari populations we were analyze five microsatellite markers (D3S3730, D3S3609, D3S3592, D3S1262 and D3S3600) flanking the LIPH gene in 18 Chuvash and 20 Mari chromosomes bearing the mutation and in populations chromosomes (74 and 86). The mutation was associated with D3S3609, D3S3592 and D3S1262 in Chuvasians and with D3S3609 and D3S3592 in Marians. The mean age was equal to 26.3 generations for Chuvashians and 35.67 generations for Marians, i.e. ~ 720 and 1070 years. These results assume that bottle neck was 700 - 1000 years ago in these regions. P10.45 the Linkage Disequilibrium Pattern of IGF- Promoter Polymorphism Y. Chen 1 , W. Huang 1 , H. K. V. Leung 1 , L. S. N. Tang 1,2 ; 1 Department of Chemical Pathology, Shatin, Hong Kong, 2 Laboratory of Genetics of Disease Susceptibility,Li Ka Shing Institute of Health Sciences, Shatin, Hong Kong. Introduction: Insulin-like growth factor-I (IGF-I) is a strong risk factor of various cancers including colon cancer, prostate cancer and premenopausal breast cancer. Some studies suggested that the length of a cytosine-adenine (CA)n repeat polymorphism located in the promoter 1 region 970bp upstream of transcription start site (TSS) of IGF-I gene is proportional to the IGF-I expression, while some others failed to reproduce this relationship. Therefore, we hypothesized that there may be some other genetic variations in the IGF-I promoter region contributing to the high activity of IGF-I other than the -970 CA microsatellite repeat. The objective of this study was to define the relevant haplotypes of IGF-I promoter in the Chinese population. Methods and results: One hundred and sixty male Chinese subjects participated in this study. Three identified SNPs (-603 T/A, -705 T/C, -1410 T/C) and the -970 CA microsatellite repeat in the IGF-I promoter 1 were selected and genotyped by restriction fragment length polymorphism (RFLP). The results showed that three haplotypes, C-18-TT, C-19-TT, and T-21-CA, are prevalent, and they account for almost 80% of genotypes in the Chinese population. Conclusion: The haplotype pattern, together with the CA microsatellite repeat number, may be a biomarker for various cancers in the Chinese population. Additional studies are needed to investigate the different transactivation activity of the prevalent haplotypes in the Chinese population.
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Volume 17 Supplement 2 May 2009 www
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European Society of Human Genetics
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Table of Contents spoken Presentati
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Plenary Lectures PL2.2 massive para
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Concurrent Symposia s01.1 Genome va
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Concurrent Symposia Monogenic diabe
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Concurrent Symposia invariable in t
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Concurrent Symposia s11.2 clinical,
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Concurrent Symposia s13.2 A novel g
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Concurrent Sessions c01.1 mRNA-seq
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Concurrent Sessions velopmental del
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Concurrent Sessions development of
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Concurrent Sessions c04.6 Duplicati
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Concurrent Sessions genes to be rec
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Concurrent Sessions c07.5 Prenatal
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Concurrent Sessions with familial h
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Concurrent Sessions University of W
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Concurrent Sessions with this, we f
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Concurrent Sessions had immotile ci
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Concurrent Sessions abnormal glycos
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Concurrent Sessions showers’ and
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Concurrent Sessions partial gene de
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Concurrent Sessions leads to distre
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Genetic counseling Genetics educati
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Clinical genetics and Dysmorphology
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Cytogenetics P03. cytogenetics Recu
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Cytogenetics use of metaphase analy
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Cytogenetics 2: mother’s age < fa
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Cytogenetics P03.028 HLA B27 allele
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Cytogenetics karyotype revealed a p
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Cytogenetics drome is estimated at
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Cytogenetics P03.057 Pathological c
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Cytogenetics grandmother and 2 mate
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Cytogenetics method used to detect
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Cytogenetics P03.082 High-resolutio
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Cytogenetics All detected anomalies
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Cytogenetics somy for chromosome 2.
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Cytogenetics cially in chromosome 4
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Cytogenetics (59.390.122 to 62.021.
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Cytogenetics For further characteri
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Cytogenetics 9p duplication. This c
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Cytogenetics regions with mental /d
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Cytogenetics donation program of po
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Cytogenetics P03.165 interpretation
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Cytogenetics P03.174 Deletion of th
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Cytogenetics P03.183 An atypical 7q
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Cytogenetics spermia, 11 oligosperm
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Reproductive genetics and social fa
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Reproductive genetics mosomal chang
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Reproductive genetics two cohorts w
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Reproductive genetics the 147 SC ch
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Prenatal and perinatal genetics P05
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Prenatal and perinatal genetics and
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Prenatal and perinatal genetics fro
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Prenatal and perinatal genetics dev
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Prenatal and perinatal genetics in
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Prenatal and perinatal genetics obj
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Prenatal and perinatal genetics P05
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Cancer genetics P06.005 tiling reso
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Cancer genetics tient group in whic
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Cancer genetics chronic inflammatio
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Cancer genetics licular thyroid can
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Cancer genetics also studied. In 31
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Cancer genetics tile polyposis. We
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Cancer genetics Upon recombinant ex
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Cancer genetics variant allele was
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Cancer genetics from patients with
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Cancer genetics tion (PAX5 and GATA
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Cancer genetics scribed underexpres
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Cancer genetics of the ZIC gene fam
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Cancer genetics Materials and metho
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Cancer genetics the past and it is
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Cancer genetics P06.130 spectrum an
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Cancer genetics P06.139 the role of
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Cancer genetics and MSH2 germline m
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Cancer genetics P06.155 New roles f
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Cancer genetics screening was perfo
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Cancer genetics val (DFI) than pati
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Cancer genetics is hTERC gene ampli
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Cancer genetics on chromosome regio
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Cancer genetics preferentially dupl
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Cancer cytogenetics mutations in co
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Cancer cytogenetics P07.08 molecula
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Statistical genetics, includes Mapp
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Molecular basis of Mendelian disord
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Metabolic disorders P12.167 Pattern
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Metabolic disorders PKU. BH4 challe
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Metabolic disorders catepe Universi
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Metabolic disorders respectively. G
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Metabolic disorders enzymaticaly co
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Metabolic disorders Normal Affected
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Therapy for genetic disorders in th
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Therapy for genetic disorders P14.0
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Therapy for genetic disorders of me
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Laboratory and quality management P
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Laboratory and quality management T
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Molecular and biochemical basis of
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Genetic analysis, linkage ans assoc
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Author Index Allanson, J.: P02.140
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Author Index 0 Barbacioru, C.: C01.
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Author Index 0 Bonneau, D.: C16.2,
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Author Index 0 Chakravarti, A.: C13
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Author Index 0 Dan, D.: P01.39, P14
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Author Index 0 Duskova, J.: P06.012
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Author Index Franke, A.: P09.056 Fr
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Author Index Grasso, R.: P02.025 Gr
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Author Index Holder-Espinasse, M.:
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Author Index Jurkiewicz, E.: C14.5
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Author Index Kooper, A. J. A.: P05.
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Author Index Li, K. J.: P11.086 Li,
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Author Index Martinet, D.: P03.095
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Author Index Moorman, A. F. M.: P16
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Author Index P10.57, P10.82 Oguzkan
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Author Index P09.054, P09.085, P09.
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Author Index P16.01 Renieri, A.: P0
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Author Index Santorelli, F.: P08.55
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Author Index Sinke, R. J.: P02.020
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Author Index Taheri, M.: P04.33, P0
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Author Index Valentino, P.: P02.064
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Author Index Wiemer-Kruel, A.: P14.
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Keyword Index 1 10q22 deletions: P0
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Keyword Index autosomal dominant re
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Keyword Index CLA: P06.073 CLCN1 ge
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Keyword Index DMD: P16.40, P16.41,
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Keyword Index gene networks: S12.2
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Keyword Index hydrocephaly: P05.11
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Keyword Index malignant hyperthermi
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Keyword Index NAT2: P12.118 natridi
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Keyword Index Polymalformations: P0
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Keyword Index Sardinia: C09.6 Sardi
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Keyword Index TNFalpha: P08.61, P09
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2009 Vienna - European Society of Human Genetics

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