2009 Vienna - European Society of Human Genetics

Statistical genetics, includes Mapping, linkage and association methods
child and 9 parents and 2 siblings were carrier (heterozygous) with
mutant alleles ranging from 66 to 850 repeats. Family studies confirmed
the meiotic instability and stronger effect of expansion in the
smaller alleles on phenotype and a negative correlation between GAA
repeat expansion size and onset-age of the disease. In additionaly;
In nineteen FA patients (11 males and 8 females) with the age range
of 6 to 34 years (mean 22.26 ± 7.06 ) and their relatives with the age
range of 4-72 years (mean 34.6 ±17.9), cytogenetic studies were performed.
Three of them had different cytogenetic findings which were
46,XY,Yqh+, 46,XX,t(7;15),(q34;q21), 46,XY,inv(9)(q21;p12).
P08.30
GABRG2 and ADH polymorphisms in alcohol dependence
E. O. Aktas 1 , E. Senol 1 , A. Kocak 1 , H. Ak Celik 2 , H. H. Aydin 2 , H. Coskunol 3 , A.
Berdeli 4 ;
1 Ege University School of Medicine Department of Forensic Medicine, Izmir,
Turkey, 2 Ege University School of Medicine Department of Biochemistry, Izmir,
Turkey, 3 Ege University School of Medicine Department of Psychiatry, Izmir,
Turkey, 4 Ege University School of Medicine Department of Pediatrics, Izmir,
Turkey.
Our study aimed to investigate role of GABRG2 and ADH gene polymorphisms
in patients who had alcohol dependence. In the literature,
there are controversial results on the role of these gene polymorphisms
in alcohol dependence. We think that, difference in population groups
and selective inclusion criteria for alcohol dependence may affect results.
Thus, we studied GABRG2 and ADH gene polymorphisms in
Turkish population.
150 volunteers with no physical or psychological/mental diseases
history and 100 patients who admitted to Ege University Alcohol Dependence
Unit between years of 2005-2006 enrolled to the study. We
found, significant increase in T allele and TT genotype in GABRG2
polymorphism in patients compared to healthy controls. Moreover,
significant differences were also determined for ADH1 Arg allele and
Arg/Arg genotype.
Compared to previously studies, we found more profound connection
between alcohol dependence and GABRG2 gene polymorphism. Alcohol
dependence is an important health problem depends many genetic
and environmental factors but we think that it is possible to interpretation
genetic risk for developing early diagnostic methods and treatment
strategies by comprehensive linkage and association studies.
P08.31
the mathematical model of prediction of genetic targets in a
limited amount of their measurements
A. B. Vekshina 1 , R. A. Zinchenko 2 , V. N. Evdokimenkov 1 , T. Mamedov 3 ;
1 Moscow Aviation Institute, Moscow, Russian Federation, 2 Research Centre for
Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian
Federation, 3 Bauman Moscow State Technical University, Moscow, Russian
Federation.
Pattern studies of genetic processes of the Russian populations and
ethnic groups, is one of the problems of medical genetics. Genogeographic
maps today have become well-designed chart patterns, reflecting
genogeographic structure and epidemiology of hereditary diseases.
The specialists of the Medical Research Centre for Medical Genetics
developed a mathematical model that provides a forecast incidence
of a wide range of hereditary diseases within the studied population.
As a basis for developing the model they employed the experimental
results of population studies of Kirov, Kostroma, Bryansk, Tver, Rostov,
Arkhangelsk, Krasnodar Region, the Republic of Mari EL, Adygea,
Chuvashia and Udmurtia. The software developed from the known
analogues has the following major points:
-flexible structure with the possibility of automatic adaptation of the
model prediction, depending on the number of settlements, where the
population-genetic studies were carried out;
-the possibility of calculating the predicted prevalence of hereditary
diseases for each municipality of the population under study, considering
its geographical location and population number;
-nonequilibrium of the data, involved as “strong” values in the model
prediction, taking into account the geographic and population proximity
of the settlement, for which the forecast is performed, and the
settlements, where the experimental population-genetic studies were
conducted.
The developed model is implemented as an autonomous software
system, with a simple interface that supports data input and storage,
as well as visualization unit, providing automatic display of genogeographic
maps reflecting the incidence of hereditary diseases within the
population under study, based on the data entered by the user.
P08.32
Genome-wide linkage scan of human cognitive abilities in a
large Dutch pedigree
I. Zorkoltseva 1 , M. Schuur 2,3 , A. Kirichenko 1 , J. van Swieten 3 , I. de Koning 3 , B.
Oostra 2 , Y. Aulchenko 1,2 , T. Axenovitch 1 , C. van Duijn 2 ;
1 Institute of Cytology and Genetics, Novosibirsk, Russian Federation, 2 Department
of Epidemiology, Erasmus University Medical Center, Rotterdam, The
Netherlands, 3 Department of Neurology, Erasmus University Medical Center,
Rotterdam, The Netherlands.
We performed a genome-wide multipoint linkage analysis of normal
variation of cognitive function in an extended pedigree from the Erasmus
Rucphen Family study. The study included 2883 subjects (mean
age 48) characterized by eight cognitive tests. The test battery was developed
to target endophenotypes for Alzheimer’s disease (AD) but as
expected for endophenotypes may also involve other disorders. Four
composite scores for visuospatial ability, memory, executive function
and global cognition were constructed. Pedigrees were split to the
maximum bit-size of 18 and non-parametric linkage analysis was performed
using MERLIN. Analysis was performed in the total population,
and after stratification for age. Highest LOD scores were obtained in
the analysis of persons