2008 Barcelona - European Society of Human Genetics

Normal variation, population genetics, genetic epidemiology 0
P07.070
Development of new genetic methods for predictive testing of
multifactorial diseases and maximum prolongation of the human
active life (analysis of 14 genes)
O. S. Glotov, A. S. Glotov, G. S. Demin, M. V. Moskalenko, N. U. Shved, V. G.
Vakharlovsky, T. E. Ivashchenko, V. S. Baranov;
Ott’s Institute of Obstetrics and Gynecology RAMS, St-Petersburg, Russian
Federation.
It is well-known that diagnostics on early stages and prophylaxis
of different diseases is one of the most actual problems of modern
medicine . Patient usually consults a doctor on the stage when disease
is already in progress . At the same time the cause of pathological
process often remains unclear . In this case intensive treatment can
improve state of health of patient only for sometime and makes him
dependent on symptomatic drugs . Diagnostic of predisposition to the
multifactorial pathologies nowadays becomes an important tool that is
necessary for solution of the predictive medicine problems . The basic
directions of these researches are connected to genes of cancerogenesis
and cardiovascular diseases . Using pharmacy biochip specially
constructed for population studies, 13 polymorphisms of 7 genes:
CYP1A1(C4887A, A4889G, T6235C), CYP2D6(G1934A, DelA2637),
CYP2C9(C430T, A1075C), GSTM1(del), GSTT1(del), NAT2(C481T,
G590A, G857A), CYP2C19(G681A) and using RFLP method 7 polymorphisms
of genes: AGT(M235T), ACE(I/D), AGTR1(A1166C),
PAI1(4G/5G), GPIIIa(C1565T), MTHFR(C677T), NOS3(4/5) were investigated
in 3 age-specific groups from North-West Region of Russia.
The frequencies of same genotypes and alleles of CYP2C9, GSTM1,
GSTT1, NAT2, AGT, ACE, AGTR1, PAI1, MTHFR, NOS3 genes were
different between studied groups . In our investigation was demonstrated
that people who have certain genotypes of studied genes for
men and for women have some metabolic advantages for their longer
survival . Further, it is necessary to perform studies on various groups
of different age, taking into account meta-analysis data to estimate the
role of age-regulating genes and multifactorial diseases in aging .
P07.071
Genetic structure of rural population of Kazakhstan
G. M. Berezina, G. Svyatova, A. Baysbekova, M. Kirikbaeva;
Scientific Center of obstetrics, gynecology and perinatology, Almaty, Kazakhstan.
The study of genetic structure of modern populations of the man is one
of key problems of genetics . Genetic and demographic information for
the Kazakhs population living in the Republic of Kazakhstan is presented
. The marital-migrational structure of eight districts of Kazakhstan
was studied on the basis of marital recodes . The average value
of ethnic marriage assortativeness was found to be 1,78 . The genetic
structure of rural populations of Kazakhstan is formed by respective
districts and region . The mean number of children per woman constituted
4,71 . Crow index of total selection (I tot ) and its components (I m ,
I f ) were 0,36, 0,08 and 0,26 respectively . The size of the portion of the
population of reproductive age (34,4% of the total), family size (4,71),
and the predominance of the portion of the population (49,8% of the total)
under reproductive allow us to classify this population as growing .
The parameters of isolation of Malecots distance and index endogamy
in eight districts of Kazakhstan are counted up . Highest local inbreeding
is found out in the district of Abai (0,00103) . The index of endogamy
is 53,6% A significant correlation between effective population
size, endogamy and ethnic diversity with a level of local inbreeding
was revealed (r= -0,896; 0,585; -0,658) . Recent social and economic
changes have led to an increase in general and ethnic isolation of rural
populations of Kazakhstan .
P07.072
Ethnic-Pathology: distribution of disease, in colombian
indigenous groups, genetic and environmental aspects.
A. Ordonez, F. Suarez;
Instituto de Genetica Humana, Bogota. D.C., Colombia.
Ethnic-Pathology: distribution of disease, in Colombian minority
groups, genetic and environmental aspects .
The frequency of disease varies among populations, the reasons for
this variation may be social, cultural or due to environment, but the
incidence, prevalence, response to treatment and natural history of
disease are also influenced by genotype, and although distinction be-
tween genetic variation and the genetic variation associated with the
disease is not absolute, the phenotypic expression of certain abnormal
variations in the DNA depends mainly of the environment . Colombia is
a multi-ethnic country with a variety of geographical areas, therefore,
the behavior of the disease does not maintains a uniform epidemiological
profile in all human groups, and is likely to be established according
to specific profiles frameworks that define the ethnic groups. The
ethnic-pathology would be defined, as the study of disease according
to the affinities of a human community framed on it’s own aspects biological
and cultural . This paper aims to describe the demographic distribution
of the disease in the Colombian indigenous groups, according
to their biological determinants, and to analyze how the expression of
the disease varies depending on the development of the cultural and
genetic determinants of a population .
P07.073
male infertility risk evaluation in inhabitants of radiation polluted
territories of Ukraine
A. V. Klepko, S. Andreychenko;
Scientific Center for Radiation Medicine, Kyiv, Ukraine.
Reproductive system has been shown to be highly sensitive to radiation
. Consequently continuous low dose ionizing irradiation may cause
severe sexual disorders . In this connection present research aims in
evaluation quality and fertility potential of human sperm from radiationpolluted
regions of Ukraine, the role of radiation component in sperm
damaging being assessed .
Freshly ejaculated semen was obtained from volunteers by masturbation
after 3 days of sexual abstinence . Then sperm motility, morphology
and concentration were analyzed by light microscopy in accordance
with WHO protocol . Although light microscopy is routinely applied for
the diagnosis of male infertility, however the limitations of such analysis
are well recognized. Therefore flow cytometry (FCM), which allows
the simultaneous measurement of several biological characteristics
at the single cell level in several thousands of cells, was used as a
complementary approach for rapid identification of sperm chromatin
and membrane disturbances .
The following parameters, namely apoptosis development (AD), mitochondrial
membrane potential ( ΔΨm ) and nuclear DNA ploidy (DP),
were identified on flow cytometer PAS (Partec, Germany). AD was followed
by Annexin V - Apoptosis detection Kit I (BD Pharmingen, USA)
, ΔΨm was measured by means of Rhodamin 123 dye and DP was
quantified using propidium iodide staining.
The data received have shown the existence of specific correlations
between the radiation dose accumulated by donors and the quantitative
distribution of spermatozoa in subpopulations of apoptic, necrotized,
immobile and viable cells . Furthermore, the increase of sperm
DNA aneuploidy and DNA fragmentation proved to be concomitant to
infertility growth
P07.074
iranian Population Data on sixteen short tandem Repeat loci:
stR multiplex Assays
M. A. Saremi 1,2 , M. Tavallaei (Ph.D.) 1 , M. Sajedifar 2 , S. Zeinali (Ph.D.) 3 ;
1 Baqiyatallah Medical Sciences University – Human Genetics Research Center,
Tehran, Islamic Republic of Iran, 2 Kawsar Human Genetics Research Center,
Tehran, Islamic Republic of Iran, 3 Pasteur Institute, Tehran, Islamic Republic of
Iran.
A population study on sixteen new short tandem repeat (STR) loci
D8S1179,D21S11, D7S820,CSF1PO, D3S1358,TH01, D13S317,
D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, FGA
and AMEL(X/Y) was performed on 1511 unrelated Iranian .
These individuals were randomly sampled, interviewed and with their
informed consent added to the sample each donating 5 ml of whole
blood . Whole blood was collected into EDTA tubes which were transferred
for storage at 4-8 C .
DNA was extracted from whole-blood specimens using the standard
salting out method and precipitated with ethanol . The multiplex PCR
was performed using approximately 2 ng of genomic DNA in a total
reaction volume of 25 µl by the multiplex kit AmpFlSTR Identifiler.
DNA quantitised by spectrophotometry. The DNA was amplified by
PCR and separation and detection by the ABI 3130 capillary system
instrument (Applied Biosystems) .
All loci meet Hardy ±Weinberg expectations . The results demonstrate