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

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Genetic analysis, linkage, and association relevant to myelination and oligodendrocyte function. In order to validate the pooling predictions, we performed individual genotyping of 54 SNPs from the top 100. This largely confirmed the predicted allele frequency differences. Twenty-two of the 54 SNPs showed nominally significant levels for association with SZ (p
Genetic analysis, linkage, and association Results: From 28 CF patients SERPINA1 gene mutation Z was detected in homozygote state in 1 person and heterozygote state in 2 persons. SNP g. 135575 in gene SERPINA1 exon III in control group was met SNP T/T variant; 66,66%, C/T; 30,63% and C/C; 2,70%. From CF patients T/T; 60,71%, C/T; 35,71% and C/C; 3,57%. Obviously, the distribution by SNP groups in both cases is rather similar and SNP T/T is most common variant in both groups. Small sample size does not allow to make any definitive conclusions, that presence PIZ mutations in CF patients, does not affect severity of disease. P1098. Early influence of UDP-glucuronosyltransferase 1A1 gene promoter polymorphism on the clinical course of sickle cell disease R. Martins 1 , A. Morais 2 , A. Dias 3 , I. Soares 4 , C. Rolão 2 , B. Nunes 1 , I. Picanço 1 , S. Gomes 1 , A. Miranda 1 , T. Seixas 1 , F. Rego 2 , J. Ducla-Soares 2 , G. Olim 5 , J. Lavinha 1 , L. Romão 1 , P. Faustino 1 ; 1 Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal, 2 Hospital de Santa Maria, Lisboa, Portugal, 3 Hospital Fernando da Fonseca, Amadora, Portugal, 4 Hospital Garcia de Orta, Almada, Portugal, 5 Instituto Português de Sangue, Lisboa, Portugal. The accelerated erythrocyte destruction in sickle cell disease (SCD) often leads to chronic hyperbilirubinaemia. The hepatic enzyme UDPglucuronosyltransferase 1A1 (UGT1A1) mediates the conjugation of bilirubin into a water-soluble form. A di-nucleotide repeat polymorphism (TA) 5-8 in the TATA box of UGT1A1 is associated with differential gene expression and enzyme level. The aim of this study was to determine whether this UGT1A1 activity polymorphism could modify bilirubin metabolism in SCD, thereby influencing the development of cholelithiasis subsequently leading to cholecystectomy. We studied 161 SCD patients with an average of 10 years of age. UG- T1A1 promoter TA repeat number was assessed by PCR and GENE SCAN. Steady-state haemoglobin and total bilirubin levels, cholelithiasis and cholecystectomy were investigated. Several UGT1A1 genotypes were found, the most frequent being 5/6 (n=9), 6/6 (n=37), 6/7 (n=61) and 7/7 (n=29). These groups did not significantly differ in age, sex and haemoglobin level. Total bilirubin levels were significantly different between groups (p=0.000) with an increased TA repeat number being associated with higher hyperbilirubinaemia. Cholelithiasis episodes (p=0.071) and cholecystectomy (p=0.034) were both augmented with TA repetition, although the former difference was not statistically significant. The odds ratio of having cholelithiasis for the genotypes 6/7 (OR=1.455; CI=0.578-3.666) and 7/7 (OR=2.057; CI=0.708-5.980) were increased when compared to 6/6. The same comparison for cholecystectomy revealed an increased risk for genotype 7/7 only (OR=4.714; CI=0.869-25.581). In conclusion, the UGT1A1 promoter polymorphism may represent an important genetic modifier of SCD even at a young age. (Work partially supported by FCT grant IME/MGI/49853/2003). P1099. Familial SIDS caused by LQT Syndrome M. Akyol1 , M. Hempel1 , M. Hartig1 , B. M. Beckmann2 , C. Marschall3 , M. F. Sinner2 , S. Kääb2 , P. Freisinger1 , P. Dressel1 , T. Meitinger1 , A. Pfeufer1 ; 1 2 3 TU Munich, Munich, Germany, LMU Munich, Munich, Germany, Center of Human Genetics and Laboratory Medicine, Martinsried, Germany. On his 17th day of life the first born son of apparently healthy parents suddenly experienced syncope, apnea and pulselessness. Resuscitation was unsuccessful. Upon autopsy SIDS was diagnosed, no genetic investigation was initiated. A second son born three years later suddenly lost tone, turned pale and stopped breathing on the 27th day of his life. A physician noted bradycardic sinus rhythm (10/min), initiated CPR and epinephrin infusion and restored sinus rhythm (160/min). In hospital the child showed repolarization disturbances characterized by QTc up to 500ms, multiple T-waves with low amplitudes and severly reduced cardiac function, attributed to traumatization during CPR. The boy survived but suffers from severe ischemic brain damage. A marginal prolongation of QTc was noted in the mother (450 ms) while the father and the sister showed no abnormalities. Molecular diagnostic testing for LQT-Syndrome revealed a novel nonsynonymous D259N change in Exon 4 of the KCNH2 (LQT2) gene in our patient and his father in heterozygous state. In the light of the repolarization abnormalities in the mother and the uneventful history of the father we speculate that the mother may carry another, yet unknown molecular variant. This case exemplifies three lessons for the diagnostic and therapeutic management of LQT and SIDS: (a) A proportion of SIDS cases (estimated 5-10%) can be attributed to monogenic LQT-Syndrome. (b) Sequencing of LQT-disease genes is mandatory in a diagnostic SIDS workup. (c) In severe forms of LQT compound mutations (Westenkow et al., Circulation 2004) may be more common than generally recognized. P1100. SimStudy: A simulation program to generate data for case-control and quantitative trait studies S. M. Leal1 , X. Zhang1 , D. W. Covarrubias2,1 ; 1 2 Baylor College of Medicine, Houston, TX, United States, Rice University, Houston, TX, United States. The SimStudy program can generate population based data which is extremely beneficial in evaluating tagSNP selection, haplotype reconstruction and population admixture/substructure. Additionally the program can be used to assess type I and type II errors of statistical methods used to detect gene main effects as well as gene x gene and gene x environmental interactions. The SimStudy program can generate di-and multiallelic marker loci data which are in linkage equilibrium or disequilibrium for qualitative (case-control) or quantitative trait data. Cases-control status is determined by penetrance models or genotypic relative risks under a specified genetic model (i.e. multiplicative, additive, etc), or based upon threshold values for a quantitative trait. Quantitative trait loci are generated based upon genotypic means, variances and specified distributions (e.g. normal, log normal, exponential, etc). For both qualitative and quantitative traits it is possible to model gene x gene (epsitatis) and gene x environmental interactions as well as locus and allelic heterogeneity. Additionally class specific data can be generated based upon for example age, sex, or environmental exposures. Missing data and genotyping error may also be incorporated in the generation of genotype data. The program can quickly generate a large number of replicates for data sets with an almost unlimited number of marker and trait susceptibility loci. For the simulated data, SimStudy can generate reports with pair-wise r2 and D’ values between all marker and susceptibility loci. The SimStudy program is written in C and is available free of charge for Unix, Linux and Windows platforms. P1101. Carrier Frequency of Spinal Muscular Atrophy in the Iranian Population M. Hasanzad 1,2 , B. Shoja Saffar 1 , A. Aghajani Refah 1 , Z. Keihanidoust 3 , K. Kahrizi 1 , E. F. Tizzano 4 , H. Najmabadi 1 ; 1 Genetics Research Center (GRC), University of Social Welfare & Rehabilitation Sciences, Tehran, Islamic Republic of Iran, 2 Science and Research Campus, Islamic Azad University, Tehran, Islamic Republic of Iran, 3 Imam Khomeini Hospital, Tehran University of Medical Science, Tehran, Islamic Republic of Iran, 4 Hospital de Sant Pau, Barcelona, Spain. INTRODUCTION: Spinal muscular atrophy (SMA) is the second most frequent autosomal recessive disorder. The incidence of SMA is one per 10,000 live births with a carrier frequency of 1/50. The SMA determining gene, called the survival motor neuron (SMN) gene, is present on 5q13 in two copies SMN1 (telomeric) and SMN2 (centromeric). Homozygous deletions of exons 7 and 8 of SMN1 occur in >95% of patients with SMA. MATERIAL & METHODS: DNA extraction was performed according to the standard protocol from 400 normal individuals from different ethnic groups of Iran as listed in the WHO report (Persian 51%, Azari 24%, Gilak & Mazandaran 8%, Kurd 7%, Arab 2%, Baluch 2%, and Turkmen 2%). Exon 7 of the SMN gene was analyzed using a PCR-based protocol followed by digestion using DraI restriction enzyme. A total of 40 obligate carriers were studied to determine the telomeric centromeric ratio for carrier detection. RESULTS & CONCLUSION: According to the T/C ratio, 52 (13%) individuals are carriers, while the remaining are normal for the SMN gene copy number. In conclusion, our results demonstrated a high frequency of SMA carriers in the Iranian population, about five times higher than that of the European population. 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 227 and 228: 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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