2008 Barcelona - European Society of Human Genetics

Normal variation, population genetics, genetic epidemiology
of the couple and their parents . The intensity of the endogamic behaviour
is determined by the endogamy ratio .
The results indicated clearly a tendency of the couples to geographical
endogamy . 95% of the couples involved in the study, chose a mate of
the same geographical origin, 98% did so in the generation of their
parents .
The integenerational comparison of the measured endogamy ratio
shows the same degree of genetic isolation for both generations
(p>0 .05) .
Compared to other results obtained in other regions of Morocco, the
Souss Massa Draa region can be qualified as “closed”, which reflects
the cultural and traditional heritage of this region .
P07.025
the frequency of cholestryl ester transfer protein taqiB
polymorphism in the Western Anatolia
C. Kılıncarslan, S. Pehlivan;
University of Gaziantep, Faculty of Medicine, Department of Medical Biology,
Gaziantep, Turkey.
The main aim of our studies is to indicate Taq1B polymorphisms in
Cholesteryl Ester Transfer Protein (CETP) gene in healthy Turkish
population as statistically and to explore the difference between other
populations . We have examined allele frequencies for cholesteryl ester
transfer protein (CETP) gene Taq1B polymorphism in our 100 healthy
control subjects (74 men and 26 women) residing in Izmir (Turkey),
by PCR-RFLP . We found the ratio for B1/B1 carriers as 30 .0% , for
B1/B2 carriers as 45 .0% and for B2/B2 carriers as 25 .0% . B1 allele
frequency was 52 .5% and B2 allele frequency was 47 .5% . Depending
on this results we observed that percentage of homozygotes for the B1
allele is lower in our samples than other populations (Spain, Greece,
Japan, France, Scotchland, Finland, USA) but for the B2 allele, it is
much more higher than the other populations which have been studied
before in other countries . The percentage of heterozygotes in our population
is also mostly lower than the other populations except healthy
Spanish population .
P07.026
Long-term cytogenetic effects of natural radiation on Gudalore
inhabitants in india
K. Sasikala, V. Balachandar, B. LakshmanKumar, R. Sangeetha, K. Suresh;
Human Genetics Laboratory, School of Life Sciences, Bharathiar University,
COIMBATORE, India.
Some locations in the Indian subcontinent have high levels of natural
radiation due to the presence of monazite along with other heavy
minerals suchas ilmenite, zircon, garnet, etc . Gudalore situated on the
Nilgiri Mountain, is the oldest and important ecosystem in peninsular
India . Indoor gamma radiation dose rates were measured inside residential
buildings in Gudalore using a CaSO4:Dy thermoluminescent
dosimeter for 1 year . The dose rates observed are between 77 .9 and
229 .3 nGy h - 1 and may be attributed to the type of building materials
used in the dwellings monitored . The pioneering work on cytogenetics
has evolved a long way for detection of various clastogenic insults and
biodosimetry can help to verify the result derived from physical dosimeters
during latter’s improper use .
The focal aim of the present investigation was to identify the chromosomal
aberrations in Gudalore area . In order to investigate the
possible cytogenetic damage to the residents of contaminated buildings,
a G-banding method was carried out on the lymphocytes of 61
radiation-exposed individuals and equal number of controls selected .
Experimentals and controls were selected by confirmed by TLD measurement
. In the present study volunteers provided blood samples (5
ml) to establish cell cultures at 52 h . For karyotyping, 40 complete
metaphase cells from each subject were evaluated .
All the recognizable structural aberrations of chromosomes or chromatid
were recorded and statistically analyzed . In 3 experimental cases
showed dicentric chromosomes . In addition, the chromosomal regions
close to the centromere were found to break more frequently than
elsewhere in the genome .
P07.027
ABCC polymorphisms contribute to level and decline of lung
function in two general population cohorts
M. Siedliński 1 , H. M. Boezen 1 , J. M. A. Boer 2 , H. A. Smit 3 , D. S. Postma 4 ;
1 Department of Epidemiology, University Medical Center Groningen, University
of Groningen, Groningen, Netherlands, 2 Centre for Nutrition and Health, National
Institute for Public Health and the Environment, Bilthoven, Netherlands,
3 Centre for Prevention and Health Services Research, National Institute of
Public Health and the Environment, Bilthoven, Netherlands, 4 Department of
Pulmonology, University Medical Center Groningen, University of Groningen,
Groningen, Netherlands.
Background:The metabolism of xenobiotics plays an important role in
smoking related lung function loss and the development of Chronic
Obstructive Pulmonary Disease (COPD) . The ATP-Binding Cassette,
Subfamily C, Member 1 (ABCC1 i .e . Multidrug Resistance Protein 1)
is a membrane pump excreting a variety of xenobiotics from the cell .
We previously showed a lower expression of ABCC1 in bronchial epithelium
of COPD patients than of healthy controls, and even further
decrements in more severe COPD stages .
Methods:We tagged ABCC1 using all 51 prevalent (minor allele frequency>5%)
and non-correlated (r 2