European Human Genetics Conference 2007 June 16 – 19, 2007 ...

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Genetic analysis, linkage, and association P1102. A possible association between Bam H1 perlecan gene polymorphism and the risk of spinal muscular atrophy in Romanian patients M. F. Stavarachi1 , P. Apostol1 , D. Cimponeriu1 , M. Toma1 , N. Butoianu2 , C. Burloiu2 , L. Dan1 , L. Cherry1 , S. Magureanu2 , I. Radu1 , L. Dumitrescu1 , L. Gavrila1 ; 1 2 Institute of Genetics, Bucharest, Romania, Alexandru Obregia Hospital, Bucharest, Romania. Perlecan is a heparan sulfate proteoglycan with various biological functions, including the neuromuscular one. Recent data have revealed functional mutations of perlecan gene in disorders characterized by severe myotonia. No correlation study between perlecan gene polymorphisms and spinal muscular atrophy (SMA) was performed before. The aim of our study was to investigate the correlation between the BamH1 perlecan gene polymorphism and the risk for spinal muscular atrophy in Romanian patients. We investigated 63 spinal muscular atrophy patients and 100 normal control subjects. The SMA patients were diagnosed according to the SMA International Consortium and the informed consent was obtained for all the subjects. The Bam H1 perlecan gene polymorphism was detected using PCR-RFLP method. The values obtained for the perlecan genotypes are shown in the table. We performed the χ2 test for both lots, the results confirming that the populations are in a Hardy - Weinberg equilibrium (χ2 = 2.73, DF =1, p = 0.05 for the SMA patients lot; χ2 = 3.62, DF=1, p = 0.05 for the control lot). For the risk genotype G/G we obtained an OR = 1.164. These are the preliminary results only. Therefore, in a future prospective study, by increasing the subject number, we hope to establish a more accurate correlation between BamH1 gene polymorphism and the risk for SMA. Genotypes SMA patients Control subjects T/T 31 (49.2%) 53 (53%) T/G 30 (47.6%) 34 (34%) G/G 2 (3.2%) 13 (13%) P1103. Carrier Frequency of Spinal Muscular Atrophy in the Largest Island of Persian Gulf (Qeshm) B. Shoja Saffar 1 , M. Hasanzad 1 , R. Vazifemand 1 , A. Anousheh 1 , A. Nazeri 1 , K. Kahrizi 1 , E. F. Tizzano 2 , H. Najmabadi 1 ; 1 Genetics Research Center (GRC), University of Social Welfare & Rehabilitation Sciences, Tehran, Islamic Republic of Iran, 2 Hospital de Sant Pau, Barcelona, Spain. INTRODUCTION: Spinal muscular atrophy is a neuromuscular disorder caused by the degeneration of α-motor neurons of the spinal cord anterior horns. It is an autosomal recessive disorder with an incidence of 1/6000 to 1/10000 and a carrier frequency of 1/40 to 1/50. Qeshm the largest island of Persian Gulf has population of more than 100,000 people. The main ethnic group is Persians with minorities of Arabs, Balouch, Indians, Portugese and African Blacks. The large size of Qeshm, its ethnic variety and tribal life style and relatively large population, make this island a proper site for genetic study. MATERIAL & METHODS: One hundred seventy eight healthy individuals participated in this study in order to find carrier frequency of SMA in this in this Island. Exon 7 of the SMN gene was amplified, followed by PCR products digestion using DraI restriction enzyme. In our study, analysis of the ratio of the telomeric to centromeric portion (T/C ratio) of the SMN gene after enzyme digestion was performed using LabWork Software in order to differentiate carriers, normal and affected individuals. RESULT & CONCLUSION: Our result shows 22 out of 178(16%) were carriers while the remaining was normal. In conclusion our findings indicate SMA carrier frequency in the Island Qeshm is six times higher than European and American population. P1104. Alpha-synuclein promoter haplotypes and dementia in Parkinson’s disease S. Carrideo1 , E. V. De Marco1 , P. Tarantino1 , F. E. Rocca1 , G. Provenzano1 , D. Civitelli1 , F. Annesi1 , I. C. Cirò Candiano1 , N. Romeo1 , G. Nicoletti1 , R. Marconi2 , G. Annesi1 ; 1Institute of Neurological Sciences, National Research Council, Mangone (CS), Italy, 2Department of Neurology, Misericordia Hospital, Grosseto, Italy. Dementia is a common complication of Parkinson’s disease (PD). It correlates significantly with the presence of cortical, limbic or nigral Lewy bodies, mainly constituted of alpha-synuclein. Mutations of the alpha-synuclein gene have been linked to rare familial forms of PD, while association studies on the promoter polymorphisms have given conflicting results in sporadic patients. In a previous study we did not find association between the Rep 1 polymorphism of the SNCA promoter and PD in our population. Since haplotype analysis has proven to be a more reliable method in association studies, in this work we analyzed a more extended region of the the SNCA promoter . We performed a case control study to investigate whether genetic variability in the promoter of the alpha-synuclein gene could predispose to dementia in PD. A total of 114 demented patients and 114 non-demented patients with sporadic PD were included in the study. Six polymorphic loci (including the Rep1 microsatellite) in the promoter of the SNCA gene were examined. Each marker, taken individually, did not show association to dementia and no significant differences were observed in the inferred haplotype frequencies of demented and non-demented patients (p=0.73). Our data suggest the lack of involvement of the SNCA promoter in the pathogenesis of dementia in PD. Further studies in other populations are needed to confirm these results. P1105. Further evidence for additional loci for split hand/foot malformation in chromosome regions 4q32-q35 and 6q16-q22 D. Niedrist, A. Schinzel; Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland. On the basis of the Human Cytogenetic Database (HCDB) we collected from the literature 102 cases with chromosomal aberrations and split hand/foot malformation or absent fingers/toes. Statistical analysis revealed highly significant association (pT conferred a significant risk for IS on both univariate and multivariate analyses (PR, PON2 148G>A and PON2 311C>S were associated with IS, and QAS haplotypes indicated a 1.87-fold increased risk of developing IS (P=0.01). ATP-binding cassette transporter A1 gene (ABCA1): we studied five intragenic markers, and first established that the RL haplotype (combination of R219K and V825L marker mutations) was strongly associated with decreased HDL-c levels (OR=8.33, P=0.001). We then found that allele 774P of mutation T774P showed the strongest direct association with IS (OR=4.06, P
Genetic analysis, linkage, and association P1107. Association analysis of the triallelic polymorphism of the serotonin transporter gene with suicide Z. Khalilova, D. Gaysina, E. Khusnutdinova; Institute of Biochemistry and Genetics, Ufa, Russian Federation. Serotonergic dysfunction has been implicated in the pathophysiology of suicidality. The serotonin transporter (5-HTT) strongly modulates serotonin function and is a major therapeutic target in several psychiatric diseases, including anxiety, depression, and suicide. 5-HTTLPR, a functional polymorphism of the 5-flanking region of the 5-HTT gene has been intensively studied for association with suicidal behaviour. Some, but not all, studies using biallelic S/L genotyping have demonstrated a higher frequency of the low activity S allele and with suicidal behavior. A>G polymorphism (rs25531) has been detected within 5-HTTLPR: L G haplotype is equivalent to the lower expressing S allele. The aim of our study was to examine the relationship of a triallelic 5-HTTLPR polymorphism to suicidal behavior in a gender-specific manner. 231 suicide attempters (79 men, 152 women) and 264 healthy volunteers (160 men, 104 women) without history of suicidal behaviour from the general population of Russia were genotyped for the triallelic 5-HT- TLPR polymorphism using PCR-RFLP technique. All individuals were considered as LL carriers (L A L A ), LS carriers (L A S, L A L G ) or SS carriers (SS, L G S, L G L G ). The distribution of allelic and genotype frequencies were in accordance with the Hardy-Weinberg equilibrium. We revealed no significant differences in allele and genotype distribution between suicide and control groups. In women there was a tendency of a lower frequency of the LS carriers in suicide group compared to that in control group (chi2=3.5; p=0.06; OR=0.62, 95%CI 0.38-1.02). Our findings indicate a possible contribution of the 5-HTT gene to susceptibility for suicidal behaviour in females only. P1108. Analysis of type I collagen α1 and α2 chains genes in patients with syringomyelia from Bashkortostan T. N. Mirsaev 1 , D. V. Islamgulov 2 , E. K. Khusnutdinova 2 ; 1 Bashkir State Medical University, Ufa, Russian Federation, 2 Institute of Biochemistry and Genetics of Ufa Scientific Center of RAS, Ufa, Russian Federation. Syringomyelia is a rare disease of the spinal cord that causes neurological deficit. A mendelian transmission of syringomyelia (autosomal dominant or recessive) has been proposed in approximately 2% of reported cases. The association of syringomyelia with hereditary diseases (Noonan’s syndrome, phacomatoses) has been mentioned frequently in the literature. However the possible involvement of a genetic component in some cases of syringomyelia is debated. In Bashkortostan republic syringomyelia rate is one of the highest around the world (3.2 - 130 cases per 100 000 inhabitants). The aim of the present study was to test two polymorphisms in genes encoding proteins of α1 and α2 chains of collagen (A/MspI of the Col1A1 gene, B/MspI of the Col1A2 gene) for association with syringomyelia in patients from Bashkortostan. 132 patients presented with magnetic resonance imaging (MRI)-proven syringomyelia and 196 controls were typed for the above-mentioned gene variants using polymerase chain reaction technique. Our data indicate the contribution of Col1A1*A (p=0.013, OR=1.28, 95%CI=1.07-1.99) and Col1A2*N (p=0.011, OR=1.37, 95%CI=1.12- 2.03) alleles to susceptibility for syringomyelia in samples from Bashkortostan. Further analysis showed overrepresentation of the Col1A1*A/*A (p=0.023, OR=1.6, 95%CI=1.05-1.59) and Col1A2*N/*N (p=0.007, OR=1.96, 95%CI=0.75-2.4) genotypes among patients compared to controls and these genotypes can be possible markers of syringomyelia. Advances in knowledge about the genetic basis of syringomyelia offer the prospect of developing new approaches to treatments of this disorder.The work was supported by RSCI grant #05-06-06168a. P1109. Association of Interferon Regulatory Factor 5 (IRF ) polymorphisms with systemic lupus erythematosus (SLE) H. Siu 1 , W. L. Yang 1 , C. S. Lau 2 , T. M. Chan 2 , H. S. Wong 1 , Y. L. Lau 1 , M. E. Alarcon-Riquelme 3 ; 1 Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong, Hong Kong, 2 Department of Paediatrics and Adolescent Medicine and Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong, Hong Kong, 3 Department of Genetics and Pathology#, Unit of Medical Genetics, Rudbcek Laboratory, Uppsala University, Uppsala, Sweden. Background: Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by the dysfunction of immune cells, leading to hyperactivity of B cells and over-production of autoantibodies and the formation of immune complexes. The level of IFN-α, a type I interferon, is correlated with both SLE disease activity and severity, and is therefore suggested to be involved in the pathogenesis of SLE. Activation of transcription factors, including Interferon Regulatory Factors (IRFs) 3, 5 and 7 can modulate the expression of type I IFN genes. IRFs control inflammation, immunity and apoptosis. Irf5 knockout mouse also shows reduction of pro-inflammatory cytokines, including IL-6, IL-12 and TNF-a production. Recently several association studies in different populations have reported that IRF5 gene is a susceptibility gene of SLE. Methods: We hypothesized that polymorphisms of IRF5 may affect the susceptibility and severity of SLE in the Hong Kong Chinese population. SNP rs2004640 creates a 5’ donor splice site for alternate isoform of transcript in exon 1, whereas rs10954213 creates a functional polyadenylation site in 3’ UTR and affects the expression of transcript variants. The 2 SNPs were genotyped in 444 SLE patients and 410 healthy controls, using sequencing. Results: No association of IRF5 gene polymorphisms with SLE was found. However, an overall difference in the distribution of the haplotype frequencies between SLE patients and controls was detected. The haplotype TA was identified as a probable risk haplotypes associated with SLE. P1110. Association study of the GABA A cluster on 15q11-13 with Tourette Syndrome in the French Canadian population. J. Riviere 1 , Y. Dion 2 , P. Lesperance 1 , G. Tellier 3 , F. Richer 1 , S. Chouinard 1 , G. A. Rouleau 1 ; 1 CHUM Research Centre, Montreal, PQ, Canada, 2 McGill University Health Centre, Montreal, PQ, Canada, 3 Sainte Justine Hospital, Montreal, PQ, Canada. Tourette Syndrome (TS) is a complex neuropsychiatric disorder manifested by motor and vocal tics and often associated with behavioral abnormalities. Various neurotransmitters involved in the cortico-striatal-thalamo-cortical circuits have been implicated in TS, including the dopaminergic, glutamatergic, GABAergic, serotonergic, and noradrenergic systems. However, most of the genetic studies have focused on candidate genes implicated in dopamine neurotransmission. The goal of this study was to investigate the genetic association between single nucleotide polymorphisms (SNPs) in the cluster of GABA A receptor subunit genes on 15q11-13 and TS in the French Canadian (FC) population. This region has been consistently implicated in several neurodevelopmental disorders and behavioral abnormalities. With an average spacing of 33 Kb, 26 SNPs spanning the GABA A receptor subunit genes (GABRB3, GABRA5, GABRG3) were selected based on minor allele frequency >0.1, spacing and haplotype blocks. We performed a family-based association study by typing these SNPs in 212 FC trios with TS. Transmission/disequilibrium test (TDT) and haplotype analyses of various SNP-windows were performed using the TDTPHASE program. Because these genes may be subject to genomic imprinting, we also performed analyses of transmission by parental sex. TDT of individual markers and haplotype analyses did not provide positive association results. When analyzed separately, paternal and maternal transmissions provided various p values < 0.05, but these results did not remain significant after correction for multiple testing. These data suggest that the GABA A cluster on 15q11-13 is not a susceptibility locus for TS. P1111. Use of SNP array analyses for diagnosis of autosomal recessive heterogeneous diseases : identification of the second TRIM32 mutation in limb-girdle muscular dystrophy type 2H M. Cossée 1,2 , C. Lagier-Tourenne 1,3 , C. Tranchant 4 , C. Seguela 1 , F. Leturcq 5 , V. Biancalana 1,6 , N. Dondaine 1 , C. Stoetzel 6 , J. Chelly 5 , E. Flori 7 , H. Dollfus 2,6 , M. Koenig 1,3 , J. Mandel 1,3 ; 1 Laboratoire de diagnostic génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France, 2 Service de génétique médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France, 3 IGBMC (CNRS/INSERM/ULP), Illkirch, 2
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Volume 15 Supplement 1 June 2007 ww
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Table of Contents Spoken Presentati
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Plenary Lectures Plenary Lectures P
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Plenary Lectures labile iron can be
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Concurrent Symposia S07. Vertebrate
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Concurrent Symposia S17. Towards a
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Concurrent Symposia 11 at E13.5 sim
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Concurrent Symposia 1 phomagenesis.
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cover cryptic mutations in Drosophi
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Concurrent Sessions first excluded
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Concurrent Sessions of 210 ancestry
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Concurrent Sessions C23. Literature
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Concurrent Sessions a boy with a ty
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Concurrent Sessions C40. Mutation o
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Concurrent Sessions C48. CHROMSCAN:
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Concurrent Sessions C57. RNAi-based
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Concurrent Sessions been replicated
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Concurrent Sessions involved in an
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Concurrent Sessions tion considers
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Clinical genetics lateral neurosens
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Clinical genetics apparently sporad
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Clinical genetics itar syndrome, wh
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Clinical genetics diseases, Foundat
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Clinical genetics P0041. The first
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Clinical genetics EFNB1 was found t
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Clinical genetics of the CSB gene.
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Clinical genetics growth retardatio
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Clinical genetics PCR with a modifi
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Clinical genetics pound heterozygou
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Clinical genetics plicated: two cou
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Clinical genetics P0105. APC gene m
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Clinical genetics an indication of
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Clinical genetics great importance
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Clinical genetics P0133. Hidrotic e
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Clinical genetics eight patients as
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Clinical genetics P0152. Kabuki syn
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Clinical genetics P0161. Intrafamil
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Clinical genetics matter and normal
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Clinical genetics type at 550 bands
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Clinical genetics will be confirmed
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Clinical genetics nosed. Accurate r
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Clinical genetics which has not bee
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Clinical genetics P0217. Partial mo
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Clinical genetics fested progeroid
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Clinical genetics A 29 years old ma
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Clinical genetics ing loss (HHL). I
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Clinical genetics dació Son Llatze
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Clinical genetics These preliminary
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Clinical genetics P0272. Williams S
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Cytogenetics Po02. Cytogenetics P02
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Cytogenetics to reports from Saudi
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Cytogenetics P0298. Female-specific
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Cytogenetics P0306. Lipoatrophic pa
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Cytogenetics 22 leading to the form
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Cytogenetics somal sperm and that o
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Cytogenetics University of Belgrade
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Cytogenetics Within the same metaph
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Cytogenetics Less than 10 cases of
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Cytogenetics lar markers taken from
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Cytogenetics Brain Unaffected Schiz
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Cytogenetics ability with no speech
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Cytogenetics P0389. An age based cy
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Cytogenetics P0399. Molecular Chara
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Cytogenetics ing of complex examina
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Cytogenetics letion in 5q33 in all
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Cytogenetics and his son carried th
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Prenatal diagnosis tion about famil
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Prenatal diagnosis P0443. The risk
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Prenatal diagnosis in house PCR pro
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Prenatal diagnosis P0462. Increased
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Prenatal diagnosis P0471. Preimplan
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Prenatal diagnosis agreement with w
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Prenatal diagnosis of Turner Syndro
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Cancer genetics ously defined for d
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Cancer genetics Their frequencies w
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Cancer genetics tion Clinic-Portugu
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Cancer genetics tric carcinogenesis
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Cancer genetics P0532. Secondary ch
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Cancer genetics P0542. Differential
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Cancer genetics gastric cancer risk
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Cancer genetics ania, 3 The Institu
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Cancer genetics low: 8% (8/98 sampl
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Cancer genetics P0578. Somatic mito
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Cancer genetics P0587. Differential
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Cancer genetics cinoma (ESCC), whic
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Cancer genetics method to measure t
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Cancer genetics pression (compared
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Cancer genetics to available biolog
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Molecular and biochemical basis of
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Page 229 and 230: Molecular and biochemical basis of
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Genetic counselling, education, gen
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Therapy for genetic disease Po10. T
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Therapy for genetic disease P1405.
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Therapy for genetic disease exon 7
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Author Index 1 Arslan-Krichner, M.:
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Author Index Borkowska, A.: P1089 B
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Author Index Coviello, D.: P0078, P
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Author Index Estivill, X.: P1216, P
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Author Index Graf, S. A.: P0021 Gra
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Author Index 1 Josifiova, D.: PL07
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Author Index Laurier, V.: C03 Lauri
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Author Index Melo, D. G.: P0260, P0
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Author Index Osorio, P.: P0218 Osta
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Author Index Reese, T.: C06 Regal,
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Author Index 1 Shaposhnikov, S.: P0
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Author Index Touitou, I.: P0733 Tou
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Author Index Xiao, C.: P1241 Xie, G
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Keyword Index ARMR: P0907 array CGH
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Keyword Index Consanguineous marria
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Keyword Index 1 Fronto-temporal dem
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Keyword Index IRF5: P1086 IRF6: P07
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Keyword Index NBS1 gene: P0567 NBS-
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Keyword Index P1085 Rep1: P1104 rep
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Keyword Index vision: P0632 Vitamin
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Notes 1
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A natural choice in Fabry Disease P
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European Human Genetics Conference 2007 June 16 – 19, 2007 ...

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