2009 Vienna - European Society of Human Genetics

Evolutionary and population genetics, and Genetic epidemiology
Methods: This descriptive - lad based study describes the mutation
analysis of paraffin embedded gastric samples from 38 patients in a
Province of Iran.We have investigated the frequency of P53 gene mutation
in exons 7 and 8 by PCR-RFLP to detected alteration in two
common hot spots in codon 248 and 282.
Results: We determined no mutation in P53 gene hot spots in codon
248 and 282.
Conclusion: We conclude that association of P53 gene mutations with
gastric cancer is very low in Chaharmahal Va Bakhtiari, a Province of
Iran. However we have examined only 38 gastric samples and more
samples need to be investigated to reveal the contribution of P53 gene
mutation in causing gastric cancer in this province. Also it is necessary
to study the entire coding region and promoter of the gene in patients
from different population and ethnic groups.
P10.69
the PPARGC A G1444A polymorphism in Lithuanian
professional athletes and the general population
V. Ginevičienė, J. Kasnauskienė, V. Kučinskas;
Department of Human and Medical Genetics, Vilnius, Lithuania.
The peroxisome proliferator-activated receptor gamma coactivator-1
(PGC1A) is involved in regulation of fatty acid oxidation, skeletal muscle
fiber type specificity, and gluconeogenesis. The prevalent G1444A
(rs8192678) variant in PGC1A was shown to be associated with traits
of the metabolic syndrome. Moreover, it is unclear whether it influences
human physical performance. The hypothesis of the present study
was that frequency of the minor [A] allele at the PGC1A locus is lower
in Lithuanian professional athletes than in the general population of
Lithuanian. We tested genotypes and allele frequencies of this SNP in
athletes (n = 551; mean age: 17.7±5.3 years) and the control group of
general population of Lithuania (n = 97; mean age: 31.3±13.5 years).
Genotyping was performed by PCR and restriction enzyme digestion.
Genotypes of athletes were identified as [G/G] 52.1%, [G/A] 42.1%,
[A/A] 5.8% (χ 2 =2.83, p=0.09) and the genotypes in the population
samples were [G/G] 42.2%, [G/A] 37.8% and [A/A] 20.0% (χ 2 =3.79,
p=0.055). The frequency of the minor [A] allele was significantly lower
in athletes than in controls (26.9% vs. 38.9%; P = 0.01). PGC1A [A/
A] genotype is less frequent in Lithuanian athletes in comparison to
the general population (5.8% vs. 20.0%; P=0.005). The results of the
present study imply that the PGC1A [G] allele of the [G/G] genotype
is more common in the professional athlete group than in the general
population of Lithuania. In conclusion, the present findings suggest
that there is an association between PGC1A G1444A polymorphism
and physical performance in Lithuanian athletes.
P10.70
Analysis of 10 autosomal DNA markers in Bashkir population
E. R. Grinberg 1 , Y. I. Grinberg 1 , V. L. Akhmetova 1 , M. A. Bermisheva 1 , R. A.
Zinchenko 2 , N. V. Petrova 2 , S. S. Murzabaeva 3 , E. E. Timkovskaya 2 , E. K.
Khusnutdinova 1 , E. K. Khusnutdinova 1 ;
1 Institute of biochemistry and genetics, Ufa, Russian Federation, 2 Research
Center for Medical Genetics, Моscow, Russian Federation, 3 Bashkirs state
medical university, Ufa, Russian Federation.
The purpose of our work was investigation of genetic differentiation
between ethno-geographic bashkir groups. Genetic structure of Bashkir
supopulations has been studied based on analysis of 10 autosomal
DNA markers (diallelic and multiallelic): CCR5Δ32, ACE, D7S23(KM19)
STR/THOI, STR/FABP, STR/IVS6a, VNTR/PAH, VNTR/ApoB, VNTR/
DAT1, VNTR/eNOS (53 alleles). The total number of samples, wich
was more than 800 individuals belonging to three ethno-geographic
bashkir groups: south-eastern (Burzyansky, Abzelilovsky, Baimaksky
and Kugarchinsky districts), north-eastern (Arkhangelsky and Salavatsky
districts) and north-western (Askinsky district) (7 subpopulations),
were analized. Analysis of allele’s frequency of autosomal
DNA markers in Bashkir subpopulations shows considerable genetic
differentiation between Bashkir subpopulations. The highest level of
genetic diversity in diallelic system was established on locus ACE,
H obs =0,5278, in multiallelic system - on locus STR/THOI, H obs =0,7520.
The level of genetic differentiation between bashkir subpopulations
is higher than in Udmurt and Chuvash populations (F ST =0,008). The
analysis of dendrograms, based on correlations between the matrix of
genetic distances, and multidimentional scaling analysis showed that
south-eastern and north-eastern ethno-geographic groups of Bashkir
are genetically closer to each other than to north-western group. Our
findings are consistent with evidences on Bashkir ethnogenesis and
historical facts.
P10.71
Analysis of three microsatellite markers (D5s818, D7s870 and
D13s317) in Romanian population and their genetic relationship
with other European populations
A. Rodewald 1 , A. Kroll 1 , G. Cardos 2 , C. Tesio 3 , D. Banica 4 ;
1 Department of Human Biology of University of Hamburg, Hamburg, Germany,
2 ”Victor Babes” National Institute of Pathology, Bucharest, Romania, 3 Faculty of
Biology, University of Bucharest, Bucharest, Romania, 4 ”Marius Nasta” Institute
of Pulmonary Diseases, Bucharest, Romania.
We report on analysis of 3 different DNA-polymorphisms (Microsatellites
D5S818, D7S870 and D13S317) in a sample of 200 individuals
from Bucharest, Romania, as a part of a more complex study, in order
to elucidate the genetic structure of Romanian population and to show
their genetic relationship with other European human populations.
Genomic DNA was isolated from whole blood samples and multiplex
PCR amplified by AmpF/STR Profiler Kit (ABI). Allele assignment was
performed by capillary electrophoresis by ABI 3100 Analyzer. Our results
were compared with similar data of a Romanian population sample
from Prahova Valley and other European human populations.
The genetic relationship between populations was evaluated based on
both Nei’s genetic distance and Principal Component Analysis (PCA)
by Phylip Package (version 3.6) and Statistical Package for the Social
Sciences Software.
Our results revealed no significant difference in allele frequencies of
the three microsatellite markers between the panmictic population of
Bucharest and the slight isolated population from Prahova Valley.
Genetic distance analysis and PCA showed closer genetic kinship to
Greek population, as well as Slavic population from Poland.
Intercultural exchanges and intense trading activities between old
human populations from Romania (Thracians) and Greek population
groups, who established colonies on the west coast of the Black Sea
(nowadays East-Romania) during the 7th-8th centuries, may explain
our findings.
The Slavic influence may be the result of migrations of Slavic groups
across the Carpathian-Danube regions during the 6th-9th centuries.
These data can also be used for paternity and forensic analyses in
Romanian population.
P10.72
High sequence variability of exon 2 of runt-related transcription
factor 2 (RUNX2) in four siberian populations
M. S. Nazarenko, M. V. Golubenko, L. P. Nazarenko;
State Research Institute of Medical Genetics, Tomsk, Russian Federation.
The runt-related transcription factor 2 (RUNX2) is the principal osteogenic
master switch, which acts as regulator of osteoblast differentiation
and skeletal morphogenesis. Mutations of RUNX2 gene were shown
to cause cleidocranial dysplasia (OMIM 119600). It’s also believed that
this gene is a candidate for osteoporosis. To date, a few reports about
polymorphisms in the RUNX2 gene have been published describing
population prevalence of repeat length variants in glutamine and alanine
stretches and nearby SNPs. We employed PCR-RFLP and DNA
sequencing to screen genetic variations within the exon 2 of RUNX2
gene in DNA samples of Russians (n=96), Yakuts (n=96), Tuvinians
(n=96) and Buryats (n=96). In total of 15 chromosomes with glutamine
stretch variants (16Q, 30Q and 32Q) were detected in our study.
Two mutants (16Q) were found among Russians. One 32Q allele and
one 30Q allele were identified in Yakutia and Tuva, respectively. The
most abundant sequence variability was registered in Buryatia. From
the 96 individuals genotyped, there were a total of 11 glutamine tract
variations, including ten 32Q alleles and one 30Q allele. All RUNX2
variants were heterozygous for a mutant allele and a wild type allele.
We revealed two Tuvinians with novel variant NM_001924630.2:
c.467C>T (NP_001019801.2: p.A156V). The frequencies of alleles
and genotypes of common 18 base pair deletion of polyalanine tract
and rs6921145:G>A were also established in our study. These results
suggest that there is considerable sequence variability of exon 2 of
RUNX2 gene in ethnically diverse Siberian populations.