2008 Barcelona - European Society of Human Genetics

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Molecular and biochemical basis of disease P06.273 intronic sequence changes may have unpredictable effects on splicing F. Joncourt, S. Gallati; Human Genetics, Department of Pediatrics, University Hospital, Berne, Switzerland. Mutation scanning often identifies yet undescribed sequence changes in genomic DNA, which are not easily classified as either pathogenic or neutral solely by sequence inspection . Increasing knowledge about the splicing process has revealed its great complexity: In addition to the well known splice-site consensus sequences in recent years a multitude of regulatory elements have been identified both within introns as well as within exons. In order to assess / confirm their pathogenic nature, we have analysed the effect on splicing of several yet functionally uncharacterized intronic sequence changes in different genes by analysing their respective RNA’s . Lymphocytes from patients were immortalized, RNA was extracted and reverse transcribed . The cDNA was then amplified by PCR and analysed by PAGE or agarose gel electrophoresis . Bands with altered electrophoretic mobility were isolated, purified and sequenced. Two mutations located within the conserved donor and acceptor splice sites respectively (NF1: c .3496+1G>A and SPG4: c .1688-2A>G) were shown to lead to exon skipping as expected. c.357+2T>A identified in a patient’s DMD-gene, however, resulted in the inclusion of 31 bases of intronic sequence into the mRNA leading to a frameshift, while exon skipping would have left the reading frame intact . This latter case further illustrates that the effect of an unknown mutation on the splicing process can not easily be predicted . The results emphasize the need for functional characterization of newly described sequence changes . P06.274 sPRY1 molecular analysis in subjects with ureteral duplicity L. Artifoni 1 , E. Benetti 2 , S. Negrisolo 1 , S. Centi 1 , G. Caridi 3 , G. Ghiggeri 3 , L. Murer 1,2 ; 1 Laboratory of Nephrology, Department of Paediatrics, University of Padua, Padua, Italy, 2 Paediatric Nephrology, Dialysis and Transplantation Unit, Department of Paediatrics, University of Padua, Padua, Italy, 3 Laboratory of Physiopathology of Uremia, Gaslini Institute, Genoa, Genoa, Italy. Studies on murine models demonstrated that Sprouty1 protein, encoded by Spry1 gene, modulates Gdnf/Ret signal, which activates a crucial gene network in urinary tract development . Spry1-knockout mice develop supernumerary ureteric buds, that result in multiple ureters and kidneys . In the literature, there only one report about mutational analyses of human SPRY1 gene, the homologue of murine Spry1, even if the gene is known to be expressed in fetal renal tissue . We carried out mutational analysis of SPRY1 gene in patients with ureteral duplicity: 23 isolated and 4 familial cases . On each DNA sample, the coding region and 5’UTR were analysed by SSCP and all PCR products were then directly sequenced (ABI PRISM 3100 Applied Biosystem) . DNA from 6 subjects without kidney and urinary tract anomalies was used as control group . We detected 5 polymorphisms (SNPs), previously reported in databases, and 1 nucleotide substitution, which has never been reported . The frequency of this substitution was estimated in 127 umbilical cord blood DNA samples and was 0 .094 . In order to understand SPRY1 role in renal development, mutational analysis will be extended to a population of subjects with different malformative nephrouropathies and association studies with the detected polymorphisms will be performed . P06.275 transcriptomic analysis of statin treated rat skeletal muscle cells M. J. Ko, H. S. Choi, H. S. Jeong, J. I. Ahn, S. Y. Kim, H. J. Chung; National Institute of Toxicological Research of Korea, Seoul, Republic of Korea. Statins are competitive hydroxy-3-metyl glutaryl coenzyme A(HMG- CoA) reductase inhibitors that inhibit the synthesis of cholesterol from mevalonic acid . Statins are the drugs most frequently used to reduce plasma cholesterol levels and decrease cardiovascular events . However, the side effects associated with the use of statins have been highlighted by the withdrawal of cerivastatin from the market in 2001, but little is currently known about the effect of statins on the RNA expression profile of skeletal muscle cells and mechanism of myopathy. To address this issue, we used rat L6 myoblast cells, which can differentiate into myocytes, in this study . We treated cells with cerivaststin which had developed potent myopathy or pravastatin relatively less toxic than cerivastatin, and measured cell viability using MTT assay . MTT assay showed significant concentration-dependent decrease of cell viability by treatment of statins and revealed cerivastatin is much more toxic than pravastatin . It seems that DNA microarrays could be very helpful not only to predict drug-induced toxicity, but also to better understand the mechanism of actions of drug . Using DNA microarrays, we discovered 522 genes that are specifically responsible to cerivastatin-induced muscle cell toxicity and these genes correctly classified as muscle toxicity group. Moreover fifteen genes that are the potential candidates as myopathy biomarkers were selected . Among them, seven genes are the sensitive genes that were showed response even at the low toxic dose, and eight genes are responded in dose-dependent manner . P06.276 Genetic association study of Kalirin and Ropporin with ischemic stroke T. Krug 1 , H. Manso 1,2 , L. Gouveia 3 , B. V. Fonseca 1 , I. Albergaria 2 , G. Gaspar 2 , M. Correia 4 , M. Viana-Baptista 5 , R. M. Simões 6 , A. N. Pinto 6 , R. Taipa 4 , C. Ferreira 7 , J. R. Fontes 7 , M. R. Silva 8 , J. P. Gabriel 8 , I. Matos 9 , G. Lopes 4 , J. M. Ferro 3 , A. M. Vicente 1,2 , S. A. Oliveira 1 ; 1 Instituto Gulbenkian de Ciencia, Oeiras, Portugal, 2 Instituto Nacional de Saude Dr. Ricardo Jorge, Lisboa, Portugal, 3 Hospital de Santa Maria, Lisboa, Portugal, 4 Hospital Geral de Santo Antonio, Porto, Portugal, 5 Hospital Garcia de Orta, Almada, Portugal, 6 Hospital Fernando Fonseca, Amadora, Portugal, 7 Hospital Sao Marcos, Braga, Portugal, 8 Hospital de Sao Pedro, Vila Real, Portugal, 9 Hospital Distrital de Mirandela, Mirandela, Portugal. Introduction: Cerebrovascular and cardiovascular diseases such as stroke and coronary artery disease (CAD) are the leading causes of death and disability worldwide . They are complex disorders resulting from the interplay of genetics and environment, and may share several susceptibility genes . Recently, an association-mapping study in the chromosome 3 linkage peak for CAD found that the rs9289231 SNP in the Kalirin gene (KALRN) was associated with CAD in multiple datasets . KALRN is involved, among others, in the inhibition of inducible nitric oxide synthase, in guanine exchange factor activity, and in the Rho GTPase-signaling pathway . The goal of the present study was to determine whether SNPs or haplotypes in the KALRN gene region, which includes the Ropporin gene (ROPN1), predispose to ischemic stroke (IS) in a cohort of Portuguese patients and controls . Methods & Materials: We genotyped 27 tagging SNPs in the KALRN- ROPN1 chromosomal region, on 565 IS patients and 518 unrelated controls, and performed single-marker association tests . Results: Intronic SNP rs11712619 in KALRN was associated with IS risk in unadjusted (allelic and genotypic p=0 .003) and adjusted (logadditive model p=0 .027, adjusted for age-at-examination, hypertension, diabetes, ever smoking/drinking) tests . A block of six SNPs (from rs2280422 to rs12637456), located mostly in the ROPN1-KALRN intergenic region, had a modest (0 .02
Molecular and biochemical basis of disease is a possible candidate because cAMP levels in immunocompetent cells influence the release of inflammatory mediators and relevant cytokines, which are important mediators of stroke recovery. Forty five SNPs covering genetic variation in the 5’ region of the PDE4D gene, including SNPs previously associated with stroke risk in the Icelandic population, were genotyped in 430 ischemic stroke patients and tested for association with functional recovery . Stroke recovery was assessed 3 months after a stroke episode, using the modified Rankin Scale (mRS). Patients were classified in two groups: good (mRS
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Volume 16 Supplement 2 May 2008 www
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Committees - Board - Organisation E
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Plenary Lectures ESHG PLENARY LECTU
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Plenary Lectures 6 Medical Genetics
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Concurrent Symposia ESHG CONCURRENT
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Concurrent Symposia s04.1 microRNA
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Concurrent Symposia 0 use of positi
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Concurrent Symposia s10.2 Non-invas
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Concurrent Symposia s13.1 Dysregula
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Concurrent Sessions ESHG CONCURRENT
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Concurrent Sessions receptor than t
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Concurrent Sessions an autosomal re
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Concurrent Sessions reporting, and
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Concurrent Sessions c06.3 clinical
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Concurrent Sessions c07.5 VLDLR (ve
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Concurrent Sessions 317,503 single
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Concurrent Sessions MYCN , E2F3 and
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Concurrent Sessions limb or thoraci
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Concurrent Sessions APC, BRCA1 and
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Concurrent Sessions identified 215
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Clinical genetics ESHG POSTERS P01.
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Clinical genetics In Cyprus, the mu
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Clinical genetics gene . Most of th
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Clinical genetics are indeed more d
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Clinical genetics P01.037 Validatin
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Clinical genetics 17 PKU patients f
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Clinical genetics L185R missense mu
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Clinical genetics P01.064 isolation
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Clinical genetics leles- is in acco
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Clinical genetics Sapienza” Unive
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Clinical genetics P01.090 Fragile X
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Clinical genetics P01.099 Deletion
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Clinical genetics other CNPs, the 1
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Clinical genetics FRAXA is the most
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Clinical genetics and PT 19 cm. Nec
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Clinical genetics P01.133 White mat
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Clinical genetics curved radii, uln
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Clinical genetics ered at the 33 rd
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Clinical genetics P01.160 character
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Clinical genetics P01.169 A variant
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Clinical genetics matological anoma
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Clinical genetics sition was identi
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Clinical genetics women ranges by p
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Clinical genetics MD2I or MDC1C sho
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Clinical genetics P01.215 the ctG r
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Clinical genetics pansion . Longer
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Clinical genetics frequency of this
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Clinical genetics mana, CUCS, Unive
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Clinical genetics P01.253 The first
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Clinical genetics consistent findin
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Clinical genetics P01.270 Genetic s
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Clinical genetics P01.279 Dilated c
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Clinical genetics objectives of our
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Clinical genetics P01.298 Hyperphos
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Clinical genetics P01.307 maternal
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Clinical genetics CM in monozygotic
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Clinical genetics P01.325 mowat-Wil
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Clinical genetics P01.334 Identific
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Clinical genetics birth defects is
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Clinical genetics The cause of this
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Clinical genetics were assumed to b
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Cytogenetics P01.369 three novel mu
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Cytogenetics P02.008 Reconfirmation
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Cytogenetics mosomal rearrangement
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Cytogenetics otide-based array plat
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Cytogenetics rangements ranged betw
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Cytogenetics 593 kb microdeletion a
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Cytogenetics We herewith report two
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Cytogenetics cise etiological diagn
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Cytogenetics deleted region contain
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Cytogenetics P02.078 mental Retarda
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Cytogenetics present on the right s
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Cytogenetics P02.096 Delineation of
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Cytogenetics P02.106 Aneuploidy of
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Cytogenetics biologic (cytogenetic)
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Cytogenetics - 60 .0) per 100 cells
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Cytogenetics netic map of deleted r
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Cytogenetics phic at delivery . Min
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Cytogenetics (according to question
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Cytogenetics P02.160 characterizati
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Cytogenetics DISCUSSION: In this st
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Cytogenetics from peripheral blood
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Cytogenetics did not influence upon
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Cytogenetics sented with ambiguous
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Cytogenetics normalities, cytogenet
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Cytogenetics P02.215 cytogenetic an
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Cytogenetics matozoa from carriers
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Cytogenetics of spermatogenesis in
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Prenental diagnostics Genotype Infe
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Prenental diagnostics T21 samples s
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Prenental diagnostics be withdrawn
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Prenental diagnostics The Consortiu
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Prenental diagnostics Here we descr
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Prenental diagnostics service deliv
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Prenental diagnostics cal Universit
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Prenental diagnostics nuchal transl
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Prenental diagnostics etal anomalie
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Cancer genetics forms . The typical
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Cancer genetics P04.012 A novel PtE
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Cancer genetics P04.021 comparative
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Cancer genetics P04.029 characteris
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Cancer genetics mutations detected
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Cancer genetics deleterious mutatio
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Cancer genetics Research Centre, Mo
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Cancer genetics P04.064 Dissection
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Cancer genetics P04.072 Acute promy
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Cancer genetics P04.081 Discordance
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Cancer genetics ity of the malignan
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Cancer genetics Method: mRNA level
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Cancer genetics preparations were o
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Cancer genetics ries.The identifica
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Cancer genetics P04.127 FGFR3 mutat
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Cancer genetics Our experience show
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Cancer genetics way consists of thr
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Cancer genetics and/or prognostic m
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Cancer genetics P04.162 HER-2/neu A
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Cancer genetics controls, by hetero
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Cancer genetics P04.179 molecular g
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Cancer genetics there are no change
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Cancer genetics P04.197 mutation in
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Molecular and biochemical basis of
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Genetic analysis, linkage, and asso
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Genomics, technology, bioinformatic
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Genetic counselling, education, gen
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Therapy for genetic disease 0 proce
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Therapy for genetic disease The die
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Therapy for genetic disease Science
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Therapy for genetic disease P10.26
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EMPAG Plenary Lectures and perceive
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EMPAG Plenary Lectures 0 mutation i
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EMPAG Plenary Lectures EPL5.2 the m
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EMPAG Workshops Methods The matrix
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EMPAG Posters their own home . It e
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EMPAG Posters with resultant specia
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EMPAG Posters 0 the family, relativ
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EMPAG Posters ties raised by IBMPFD
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EMPAG Posters ics, Nicosia, Cyprus,
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EMPAG Posters In collaboration with
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EMPAG Posters most patients’ psyc
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EMPAG Posters 0 EP13.2 Decision mak
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EMPAG Posters Objective . GeneBanC
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EMPAG Posters EP14.12 the role of t
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EMPAG Posters patient (35% vs . 26%
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Author Index Al-Owain, M.: P06.160
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Author Index 0 Baka, M.: P04.082 Ba
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Author Index Berwouts, S.: P09.20,
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Author Index P07.117 Buil, A.: P06.
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Author Index Cho, J.: P04.192, P08.
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Author Index Damy, T.: P01.057 Damy
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Author Index 0 Dror, A.: P05.074 Dr
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Author Index Fernandez-Real, J.: P0
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Author Index P06.310 Gavriliuc, A.
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Author Index Grinberg, Y. I.: P01.0
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Author Index Hood, L.: PL4.1 Hoogeb
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Author Index 0 P02.240, P09.63 Kala
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Author Index Kongstad, O.: P09.39 K
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Author Index Lee, C.: C13.3 Lee, D.
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Author Index Mahjoubi, F.: P02.045,
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Author Index P04.196 Meindl, A.: c0
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Author Index 00 Mottaghi, L.: P01.0
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Author Index 0 Oh, T. Y.: P01.084 O
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Author Index 0 Peñaloza, R.: P05.2
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Author Index 0 Proverbio, M.: P05.0
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Author Index 0 Rogers, M.: EP14.18
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Author Index 0 Scarcella, M.: P05.0
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Author Index P06.179 Sobrino, B.: P
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Author Index Taschner, P. E. M.: P0
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Author Index Urreizti, R.: P01.050,
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Author Index Voegele, C.: P04.121 V
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Author Index 0 P04.095, P04.106 Zem
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Keyword Index AMACR gene: P04.182 a
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Keyword Index cardiac: S04.1 Cardio
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Keyword Index Crohn: P07.022 Crohn
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Keyword Index evolution: P02.112, P
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Keyword Index 0 haemoglobinopathies
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Keyword Index KCNJ11: P05.026 KCNQ1
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Keyword Index MLH1: P04.010, P04.02
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Keyword Index osteochondrodysplasia
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Keyword Index PXE-like syndrome: P0
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Keyword Index 0 sperm: P02.205 sper
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Keyword Index venous thrombosis: P0
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2008 Barcelona - European Society of Human Genetics

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