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

Normal variation, population genetics, genetic epidemiology
between groups (p=0.011). The frequency of N allele increased with
aging from 16.8% in Group1 to 28.6% in Group2 (p=0.008). The frequency
of C allele (A1075C) of CYP2C9 gene significantly increased
in female from Group1 compared to Group2 (13.7%, 4.8%, respectively,
p=0.009).
For estimation of combined effect of GSTM1, GSTT1 and NAT2 genes
we used “score method”. The carriers of 0/0(GSTM1), 0/0(GSTT1) and
N/N(NAT2) genotypes were given a score of 2, N/S carriers (NAT2)-a
score of 1 and carriers of S/S(NAT2), n/n(GSTM1) and n/n(GSTT1)zero
score. Combined analysis revealed significant prevalence of
frequency of “score sum ≥3” in Group2 compared to Group1 (60.7%,
19%, respectively, p=0.0009).
It might be speculated that people who have certain genotypes of
GSTM1, GSTT1, NAT2 genes for men and GSTT1, CYP2C9, NAT2
genes for women have some metabolic advantages for their longer
survival.
P1131. Allele high-specific amplification for detection of LCT
C/T-13910 SNP associated with adult-type hypolactasia
M. Sokolova, K. Ignatov, S. Borinskaya, V. Kramorov, N. Yankovsky;
Institute of General Genetics RAS, Moscow, Russian Federation.
Adult-type hypolactasia limits the use of fresh milk due to lactase nonpersistence
that causes lactose intolerance. As found recently, the CC
genotype of the DNA variant -13910 T/C upstream of the lactase (LCT)
gene is associated with lactase non-persistence [Enattah et al., 2002].
Frequency of hypolactasia varies from 2-3% in North West Europe to
more than 90% in East Asia.
The aim of this study was to evaluate the applicability of LCT C/T(-
13910) SNP detection as a diagnostic test for adult-type hypolactasia
in Russia and neighboring countries.
We used allele specific amplification for determination of allele and
genotype frequencies in populations of Russians, Ukrainians, Belorussians,
Komi, Pamirs, Udmurt, Chukchi, Kazakh, Uigur, Buryat and
Iranians. Thus, DNA diagnostics for carrying the C/C genotype of the
locus C/T-13910 in individuals from populations of the European part
of Russia can be considered a predictive test for development of the
primary adult hypolactasia long before its phenotypic detection.
Allele specific amplification was performed by real-time PCR with SybrGree
and SNPase DNA polymerase (“Bionem” Russia) which can
extend a perfectly matched primer only. The obtained results have
showed that the used enzyme (SNPase) provides allele high-specific
amplification and can be used for SNP genotyping. In future we proposed
to use this high specific enzyme for large-scale high-throughput
SNP genotyping.
Application of the described method and enzyme for SNP diagnostics
will be an important step toward development of the individualized
medicine in Russia.
P1132. Studying Alleles Frequencies of 16 Short Tandem
Repeats (STRs) Zones in Iranian Population for the First Time
M. A. Saremi 1 , M. Tavallaei (Ph.D.) 1 , M. Sajedifar 2 , S. Zeinali (Ph.D.) 3 ;
1 Imam Husein University, Tehran, Islamic Republic of Iran, 2 Kawsar Human
Genetic Research Center, Tehran, Islamic Republic of Iran, 3 Pasteur Institute,
Tehran, Islamic Republic of Iran.
Using of molecular methods such as DNA typing has a special place
in studying populations and identification of anonymous people and
corpses.
Tandemly repeated DNA sequences, which are widespread throughout
the human genome, are polymorphic in nature, making them important
genetic markers for mapping studies, disease diagnosis, populations
consideration and human identity testing. Short tandem repeats
(STRs) contain repeat units that are 2-6 bp in length and can be readily
amplified with the polymerase chain reaction (PCR). STRs have become
popular in human genetic laboratories because low amounts of
DNA, even in a degraded form, can be successfully typed. Sample
mixtures can be more readily resolved with STR results than with previously
used DNA typing technologies.
We have used Genetic Analyzer device to determine STR profiling of
400 DNA samples from Iranian population of different ethnic origin.
For this subject, after DNA extraction from samples by selecting molecular
markers and using molecular methods such as PCR, specific
places in DNA must be reproduced to obtain specific personal profile
by examination and sequence determination.
Following running of the above system which is based on Capillary Array
and Fluorescent Labeled Primers, the frequency of different alleles
over different Iranian populations, determination of paternal relationship,
diagnosis as a consequence of natural catastrophes like flood,
earthquake as well as unnatural events like war.
More over, studying Iranian populations will help approved researchers
to develop new and better ways of preventing, diagnosing and
treating different illnesses.
P1133. Ancestry Informative Markers (AIMs) in Amerindians from
Brazilian Amazon
M. Rizzatti Luizon 1 , C. Mendes-Junior 2 , S. De Oliveira 3 , A. Simões 1 ;
1 Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade
de São Paulo, Ribeirão Preto, Brazil, 2 Departamento de Clínica
Médica, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo,
Ribeirão Preto, Brazil, 3 Departamento de Genética e Morfologia, Instituto de
Ciências Biológicas, Universidade de Brasília, Brasília, Brazil.
Ancestry Informative Markers (AIMs) are genetic loci with large frequency
differences between the major ethnic groups and are very
useful in admixture estimation. However, their frequencies are poorly
known within South American indigenous populations, making it difficult
to use them in admixture studies with Latin American populations,
such as the tri-hybrid Brazilian population. To minimize this problem,
the frequencies of the AIMs FY-null, RB2300, LPL, AT3-I/D, Sb19.3,
APO and PV92 were determined via PCR and PCR-RFLP in four
tribes (n=309) from Brazilian Amazon (Tikúna, Kashinawa, Baníwa
and Kanamarí), in order to evaluate their potential for discriminating
indigenous populations from Europeans and Africans, as well as discriminating
each tribe from the others. Although capable of differentiating
tribes, as evidenced by the exact test of population differentiation,
a neighbor-joining tree suggests that the AIMs are useless in obtaining
reliable reconstructions of the biological relationships and evolutionary
history that characterize the villages and tribes studied. The mean allele
frequencies from these AIMs were very similar to those observed
for North American natives. They discriminated Amerindians from Africans,
but not from Europeans. On the other hand, the neighbor-joining
dendrogram separated Africans and Europeans from Amerindians
with a high statistical support (bootstrap = 0.989). The relatively low
diversity (G ST =0.042) among North American natives and Amerindians
from Brazilian Amazon agrees with the lack of intra-ethnic variation
previously reported for these markers. Despite genetic drift effects, the
mean allelic frequencies herein presented could be used as Amerindian
parental frequencies in admixture estimates in urban Brazilian
populations.
P1134. Haplotypes in SLC24A5 gene as Ancestry Informative
Markers in different populations
I. Pietrangeli1 , C. Martone1 , I. M. Predazzi1 , E. Giardina1 , C. Martínez-Labarga2,3
, F. De Angelis2 , A. Spinella4 , G. De Stefano2 , O. Rickards2 , G. Novelli1,5 ;
1Centre of Excellence for Genomic Risk Assessment in Multifactorial and
Complex Diseases, School of Medicine, Tor Vergata University, Rome, Italy,
2 3 Department of Biology, Tor Vergata University, Rome, Italy, Centre of Molecular
Anthropology for Ancient DNA Studies, Tor Vergata University, Rome, Italy,
4Direzione Centrale Anticrimine, Servizio di Polizia Scientifica, Rome, Italy,
5Division of Cardiovascular Medicine, Department of Medicine, University of
Arkansas for Medical Sciences, Little Rock, AR, United States.
Although it has been hypothesized that many genes contribute to
produce different color shades in skin pigmentation, almost nothing
is known about the biology of these genes. Recent work shows that
the SNP rs1426654 within the SLC24A5 gene encoding for a protein
belonging to the family of potassium-dependent sodium/calcium
exchangers varies in frequency among several population samples
according to skin pigmentation. Because of these observations,
rs1426654 together with two additional intragenic markers (rs2555364
and rs16960620) have been evaluated in 471 unrelated individuals
originating from three different continents (Africa, Asia and Europe),
as Ancestry Informative Markers (AIMs) for forensic and evolutionary
purposes.
This study supports the role of human SLC24A5 gene in skin pigmentation
suggesting that variations in SLC24A5 haplotypes can correlate
with human migration and ancestry. The most of haplotypes as
well as combined genotypes with unknown phase analyzed exhibited
dissimilar frequencies between different populations. For example
2