2008 Barcelona - European Society of Human Genetics

Normal variation, population genetics, genetic epidemiology
was performed submiting PCR products to capillary electrophoresis .
Analysis revealed the following genotypes: TA 5 /TA 6 (1F; 1M) and TA 6 /
TA 7 (1F) .
TA 5 allele frequencies of 0.044, 0.017 and 0.000 have been identified
for African-American, Caucasian and Japanese, respectively . To our
knowledge, there is only one Portuguese report with the identification
of an individual with this genotype . Due to the low frequency of the
TA 5 allele on Caucasian population, HLA typing was performed in order
to evaluate putative ethnic influences. HLA alleles for loci A, Bw,
Cw, DRB1 and DQB1 were typed for all the individuals (SSP, SSO
and SBT) . HLA extended haplotype inferred for the proband: A*0102-
B*5801-Cw*1802-DRB1*1301-DQB1*0603 revealed alleles that are
extremely rare in Caucasians (e .g . Cw*1802) suggesting that this family
may have had influences from other ethnic groups. The Azores archipelago
was populated mainly by the Portuguese however, settlers
from other European, African and possibly Asian countries, are well
known in these islands history .
P07.129
Are the moravian Valachs of czech Republic the Aromuns of
central Europe? model population for isolation and admixture
E. Ehler 1,2 , V. Vančata 2 ;
1 Department of Anthropology and Human Genetics, Charles University in
Prague, Faculty of Science, Prague, Czech Republic, 2 Department of Biology
and Ecological Education, Charles University in Prague, Faculty of Education,
Prague, Czech Republic.
Moravian Valachs of Czech Republic are one of the most distinct ethnic
groups from Central Europe . Related to similar populations in Poland
and Slovakia, they emerge at the end of 15th century, as the northwesternmost
prominence of migration that started 250 years earlier in
northern Romania . Being predominately highland sheep herders and
of putative Romanian origin, they represent a Central European analogue
of Balkan Aromanian populations . We have gathered Y-chromosomal,
linguistic, ethnographic and historical data for this population
and compared them with surrounding as well as with east European
populations .
Linguistic data show specific parts of shared vocabulary of Romanian
origin between several pastoral groups in Central and Eastern Europe .
Comparing genetic and linguistic pairwise distance matrices (Mantel
test) in these populations did not revealed any significant correlation.
Thus we confirmed that plain geographical distance still plays the major
role in genetic distances between populations in Europe . From our
further analysis it is clear, that the Moravian Valachs, after at least five
centuries of admixture, are not overly genetically different from surrounding
populations . On the other hand, from the point of view of intra-population
diversity, they are much more similar to isolated Balkan
populations (e .g . Aromuns) than to Central European populations .
P07.130
Haplotype profile of vitamin K epoxide reductase (VKORC1) as
determinant of warfarin sensitivity in Roma population
C. Sipeky 1 , V. Csöngei 1 , B. Faragó 1 , K. Horvatovich 1 , L. Járomi 1 , P. Kisfali 1 , A.
Maász 1 , L. Magyari 1 , E. Sáfrány 1 , I. Takács 2 , B. Melegh 1 ;
1 Department of Medical Genetics and Child Development, University of Pécs,
Pécs, Hungary, 2 2nd Department Institute of Internal Medicine and Haematology,
Semmelweis Teaching Hospital, Miskolc, Hungary.
Oral anticoagulants, including warfarin and acenocoumarol, are the
most widely prescribed drugs for treating of thromboembolic disorders
. Complications with coumarin therapy include the narrow dosage
window, the broad variation of interindividual and interethnic drug
requirement, and the relatively high incidence of bleeding . Coumarins
target blood coagulation by inhibiting the vitamin K epoxide reductase
complex (VKORC) . Recently, three main haplotypes of VKORC1
*2,*3,*4 have been observed, that explain most of genetic variability in
warfarin dose among Caucasians . The aim of the work was to study
the VKORC1 haplotype profile of Roma population in Hungary, and
compare with results of the average Hungarian Caucasian population .
G-1639A, G9041A, C6009T single-nucleotide polimorphisms were
determined for VKORC1 haplotype-tagging . A total of 455 unrelated
Roma and 237 Hungarian controls were haplotyped . The genotypes
were analized by PCR-RFLP assay and direct sequencing . Our study
revealed significant difference in the prevalence of VKORC1*2 and
VKORC1*3 haplotypes between the Roma and average Hungarian
population (p