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

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Genetic analysis, linkage, and association with trisomy 13, two with Turner syndrome and one with Klinefelter syndrome). The MTHFR C677T allele (C-57,4% and T- 42,6%) and genotype frequencies (C/C-36,2%, C/T-42,5%, T/T- 21,3%), as well as the MTHFR A1298C allele (A-68,5% and C-31,5%) and genotype frequencies (A/A-52,2%, A/C-32,6%, C/C-15,2%) among women with a child with chromosomal aneuploidy did not differ from the frequencies observed in the general population in the Republic of Macedonia. Our results failed to support the relationship between MTHFR C677T and A1298C polymorphisms and the risk of having a child with aneuploidy. P0929. Genetic factors determining predisposition to chronic course of virus hepatitis and fibrosis in liver I. A. Goncharova1 , E. V. Beloborodova2 , M. B. Friedin1 , E. I. Beloborodova2 , V. P. Puzyrev1 ; 1Scientific Research Institute of Medical Genetics, Tomsk, Russian Federation, 2Siberian State Medical University, Tomsk, Russian Federation. Polymorphic variants in IL4 (C-590T), IL4RA (I50V), TNFα (G-308A) genes were studied for association with chronic viral hepatitis (HCV or HBV) and extent of the disease chronization which is marked by hepatic fibrosis stage. Association study was performed for levels of interleukins 4, 10, 12, tumor necrosis factor - α, fibronectin, collagenase, protease inhibitors, macroglobulines, elastases, free and protein-bound hydroxiproline. It has been found that Val/Val genotype of IL4RA (I50V) polymorphism is associated with HBV: in the patients, this genotype was registered with frequency of 3.08% whereas in control group and in patients with HCV frequency of Val/Val genotype was 15.6% and 15.3%, correspondingly. In the group of patients with weak fibrosis, a higher frequency of “A” allele of TNFα (G-308A) was found (24,5%), comparing to the population sample (11.2%). Decreasing of “A” allele frequency was observed from patients with weak fibrosis to patients with cirrhosis (8.7%). “CT” genotype of IL4 (C-590T) was more frequent in patients with cirrhosis (68,2%) than in patients with moderate fibrosis (39,1%). It has been shown that “A” allele of TNFα (G-308A) polymorphism is associated with decreased TNF-α, increased IL-4 and IL-12, as well as with low level of protein-bound hydroxiproline. In addition, association of “CT” genotype of IL4 (C-590T) polymorphism and high level of protein-bound hydroxiproline has been identified. The results suggest that “A” allele of TNFα (G-308A) polymorphism is associated with favourable course of chronic viral hepatitis, and “CT” genotype of IL4 (C-590T) polymorphism is associated with severe course of the disease. P0930. BCL3 gene association analysis with nonsyndromic cleft lip and/or cleft palate in Latvia I. Prane 1 , B. Lace 1 , L. Piekuse 1 , B. Barkane 2 , I. Akota 2 , A. Krumina 1 ; 1 Department of Molecular Biology and Genetics, Riga Stradins University, Riga, Latvia, 2 Department of Oral and and Maxillofacial Surgery, Institute of Stomatology, Riga Stradins University, Riga, Latvia. Background: Nonsyndromic cleft lip and/or cleft palate (CL+/-CP) is one of the most common congenital malformations with multifactorial trait. The incidence of CL+/-CP is in the range of 1/700-1/1000, the disease frequency in Latvia is 1 in 700 newborns, The BCL3 (B-cell leukemia/lymphoma-3) gene has been considered a susceptibility locus for nonsyndromic cleft lip with or without cleft palate, based on association and linkage studies in some populations. Matherials and methods: Four SNPs (rs10401176, rs7257231, rs8103315 and rs2927456) in the BCL3 gene were analysed with MALDI-TOFF technique for allelic association with the nonsyndromic CL+/-CP in 75 families (proband with both parents) from Latvia. Observed data analysed with transmission disequilibrium test (TDT). Results: Significant association of BCL3 gene in patients with CL+/-CP had been found with rs10401176 (P = 0.0001, df 1) and rs7257231 (P = 0.0046, df 1). Borderline association of BCL3 gene in patients with CL+/-CP had been found with rs8103315 (P = 0.045, df 1). Association was not found with rs2927456 (P = 0.317, df 1). Conclusion: BCL3 gene plays a role in development of CL+/-CP. 2 0 P0931. Founder effect in CMT-families with mutations in GJB1 gene from different regions of Russia T. B. Tiburkova 1 , O. A. Schagina 1 , E. L. Dadali 1 , V. P. Fedotov 2 , A. V. Polyakov 1 ; 1 Research centre for medical genetics, Moscow, Russian Federation, 2 Voronezhskaya medical genetics consultation, Voronezh, Russian Federation. Charcot-Marie-Tooth disease (CMT), as known as hereditary motor and sensory neuropathies (HMSN), that is characterized by symmetrical distal mussel weakness and atrophy, sensory and tendon reflexes depressed, fridrich’s foot deformation, typical change of gait, ataxia, tremor. The X-linked dominant form of CMT (CMTX1) is associated with mutations in gap junction B1 (GJB1) gene. We analyzed four families with Arg142Trp mutation, five families with Arg164Gln mutation and three families with Val181Met mutation. We performed haplotype analysis of mutant chromosomes by PCR-AFLP method using eight microsatellite markers from Xq13 region: DXS1275, DXS8040, DXS1216, DXS8111, DXS983, DXS8107, DXS8052, DXS8060. We find out that all families with Val181Met mutation have common haplotype for all markers. In two families with Arg142Trp mutation we revealed common haplotype in all markers too. In all families with mutation Arg164Gln common haplotype was not detected. Existence of a common haplotypes of chromosomes with Val181Met mutation allows us to speculate on the existence of founder effect. Common haplotype chromosomes with mutation Arg142Trp also indicate the founder effect. In families with mutation Arg164Gln the founder effect doesn’t exist, and probably codon 164 is a “hot spot” in GJB1 gene. P0932. Copynumber alterations of TEKT in Charcot-Marie-Tooth disease M. A. J. Weterman1 , F. van Ruissen1 , M. de Wissel1 , L. Bordewijk1 , J. E. Hoogendijk2 , J. Samijn3 , F. Meggouh1 , F. Baas1 ; 1 2 3 AMC, Amsterdam, The Netherlands, UMC, Utrecht, The Netherlands, MCRZ, Rotterdam, The Netherlands. The most frequent form of demyelinating CMT (CMT1a) is linked to chromosome 17p11.2. Intrachromosomal duplications, mainly of a 1.5Mb region harboring the PMP22 gene, or mutations in this gene are found in the majority of CMT1a patients. Here we describe an aberrant chromosome 17 duplication proximal of the PMP22 gene in several CMT1 patients. In these patients mutations in the coding region of PMP22 or the non-coding first exons of the two alternative transcripts were absent. This rare copy number polymorphism (CNP), starting approximately 33 kb centromeric of PMP22, encompasses the entire TEKT3 gene, in addition to the uncharacterized transcript CDRT4/LOC653497 and co-segregates with the disease in two affected families that were studied. The duplication is 186 kb in size and identical in nine different individuals from five different families. Sequence analysis and microarray CGH both show that this duplication fully maps within the commonly seen 1.5 Mb duplication and deviates from it at both ends. This CNP was not detected in 2124 normal chromosomes nor in 40 patients with CIDP. We therefore propose that this rare variant is the cause of CMT in these patients and most probably results in the disease through effects on expression of PMP22. Of note, most diagnostic tests for CMT will not detect this CNP. P0933. Quantitative fluorescent PCR in the detection of duplication/deletion of the PMP22 gene in Belarussian patients with CMT1A and NHPP. K. Mosse, T. Osadchuk, N. Rumyantseva; Scientific-Practical Center “Mother and Child”, Minsk, Belarus. Charcot-Marie-Tooth disease type 1A (CMT1A) accounts for 70-80% of CMT1 cases and is most frequently caused by the duplication of a 1.4-Mb genomic fragment on chromosome 17p12 containing PMP22 gene. For molecular diagnosis of CMT1A, based on quantitative PCR analysis of short tandem repeats (STRs), we used 5 markers located within the duplicated region. D17S2218, D17S2220, D17S2223, D17S2226 and D17S2229 were analysed in two multiplex PCR reactions followed by automated capillary electrophoresis on the ABI Prism 310. Heterozygosity values of the selected STRs in Belarus population are 81.2%, 94.5%, 72%, 77,6% and 84,3% respectively. Using this panel we genotyped 130 unrelated individuals with presumable clinical diagnoses of CMT neuropathy and 130 their family members. 36 duplications of the PMP22 gene in affected individuals from 17 families, and 3 gene deletions responsible for hereditary neuropathy with liability to
Genetic analysis, linkage, and association pressure palsy (HNPP) in one family were identified. The duplication detection rate for D17S2218 is 15/36, D17S2220 - 28/36, D17S2223 - 17/36, D17S2226 - 11/36 and D17S2229 - 15/36. The high detection rate of D17S2220 can be explained by the complex structure of the polymorphic marker, which have not only tetra but also dinucleotide repeat inside. No individual marker was informative in every patient. However, in all positive cases we were able to detect three different alleles of at least one STR. The described analysis is fast simple and reliable for pre- and postnatal diagnosis of CMT1A and NHPP in Belarussian families. P0934. A coeliac disease genome-wide association study identifies a novel susceptibility locus D. A. van Heel1 , L. Franke2 , K. A. Hunt1 , R. Gwilliam3 , A. Zhernakova2 , M. Inouye3 , W. McClaren3 , R. McManus4 , R. McGinnis3 , L. Cardon5 , P. Deloukas3 , C. Wijmenga6,2 ; 1 2 Queen Mary University of London, London, United Kingdom, University Medical Center Utrecht, Utrecht, The Netherlands, 3Wellcome Trust Sanger Institute, Cambridge, United Kingdom, 4Trinity Centre for Health Science, Dublin, Ireland, 5 6 University of Oxford, Oxford, United Kingdom, Genetics Department, Groningen, The Netherlands. Coeliac disease is a common (1% prevalence) chronic inflammatory disease of the small intestine, caused by an immune response to dietary wheat, rye and barley. HLA-DQ2 (present in 95% of coeliacs) is necessary to present wheat epitopes to CD4 T cells, but not sufficient for disease (present in 30% of the population). Previously, linkage studies were the only cost-effective way to map and isolate non-HLA genes contributing to coeliac disease. We have performed a genomewide association study and genotyped 310,605 SNPs with minor allele frequency >1% in 778 coeliac cases and 1422 population controls from the UK using the Illumina HumanHap300 BeadChip. Overall SNP call rate was 99.87%. An extended region of highly significant association was seen around the HLA locus (Ï‡2=769.1, P
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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 191 and 192: Molecular and biochemical basis of
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Normal variation, population geneti
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Genomics, technology, bioinformatic
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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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