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

Normal variation, population genetics, genetic epidemiology
(a 16-bp duplication in intron 3 and three RFLPs: for Bsh1236I at codon
72, for MspI in intron 6 and for BamHI in the 3´ flanking region) and
for variable number tandem repeat (VNTR) polymorphisms of locus
D1S80 and of the 3´ untranslated region of the gene for apolipoprotein
B (ApoB). Some data from our previous studies of TP53, 3´ApoB and
D1S80 variability were involved in the comparison of Komi with other
Eastern European populations. Multidimensional scaling analysis of
genetic distances was used for the evaluation of genetic relationships
between populations. The results revealed some affinity between Priluzski
Komi and Eastern Slavonic populations, and significant segregation
of Izhemski Komi from other ethnic groups studied. The unique
genetic features of Izhemski Komi may have been determined by their
ethnogenesis or the pressure of environmental factors, such as special
nutrition and adaptation to extreme climatic conditions.
P1209. Mapping quantitative trait loci (QTL): Is it worth investing
in repeated phenotype measurements to improve genotypephenotype
correlations?
I. Kolcic1 , O. Polasek1 , A. Vorko-Jovic1 , Z. Biloglav1 , L. Zgaga1 , I. Rudan2 ;
1 2 Faculty of Medicine, Zagreb, Croatia, Faculty of Medicine, Edinburgh, United
Kingdom.
Aim. In any attempt to identify alleles associated with human quantitative
traits (QT), the investigators will use measurements of phenotype
of interest in the recruited set of examinees and their individual genotypes.
The power of any association study to detect human QTL will
rapidly diminish if initial phenotype measurements are not accurate
and repeatable.
Materials and methods. We investigated the 14 QT’s in a sample of
people from an isolated population of Croatian island of Vis. The measurements
were performed by the same field crew using the same
methods in February 2002 and May 2003, in total of 74 examinees.
Phenotypic measurements were analyzed with paired parametric or
non-parametric statistical tests, depending on the data distributions.
Results. Most traits exhibited significant differences between two
measurements: urate (P=0.004; paired t-test), systolic blood pressure
(P