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

Normal variation, population genetics, genetic epidemiology
genetic causes of inherited ataxia in Finland - with a carrier frequency
in the general population of 1:125. The characteristic clinical features
in our patients included ataxia, peripheral neuropathy, dysarthria, mild
cognitive impairment, involuntary movements, psychiatric symptoms,
and epileptic seizures. Here, we show that the W748S mutation has
a common ancient founder for all the disease chromosomes in Australia,
New Zealand, Finland, Norway, United Kingdom, and Belgium.
Furthermore, we show that a second common POLG mutation, A467T,
also shows common European ancestry: patients from Australia, New
Zealand, and the United States share a common haplotype with European
patients. These data of ancestral haplotypes indicate that the
POLG locus is quite stable and that the recessive W748S and A467T
mutations have occurred once in history. They have effectively spread
to populations of European descent with carrier frequencies up to 1%
in several populations. Our data predict that these mutations are common
causes of ataxia and Alpers disease in the Western world.
P1204. The analysis of the nuclear genes polymorphism’s in
Kazakhs
G. M. Berezina, G. S. Svyatova;
Scientific Center of the obstetrics, gynecology and perinatology, Ministry of
Public health care of Kazakhstan Republic, Almaty, Kazakhstan.
The polymorphic nuclear locus in human genome are the objective genetic
markers for the analysis of hereditary polymorphism of the modern
human populations and evolution. A total of 324 unrelated healthy
Kazakh people were studied. A portion of ACE, TPA25, PV92, eNOS3,
APOA1, YaNBC148, YaNBC27 genes and deletion 32 b.p. of CCR5
gene from genomic DNA was amplified by PCR and analyzed on a 6%
polyacrylamide gel. Each fragment was classified according to genotypes.
Genotypes and allelic frequencies were revealed: for ACE gene
- 27,2% (II), 21,3% (DD), 51,5% (ID), 52,9% (I), 47,1% (D); for TRA25
gene - 22,8% (II), 26,9% (DD), 50,3% (ID), 47,8% (I), 52,2% (D); for
PV92 - 26,2% (II), 23,5 (DD), 50,3% (ID), 51,4% (I), 48,6% (D); for
eNOS3 gene - 1,9% (AA), 18,2% (AB), 79,9% (BB), 11,0% (A), 89,0%
(B); for APOA1 gene - 58,6% (II), 14,8% (DD), 26,5% (ID), 71,9% (I),
28,1% (D); for YaNBC148 gene - 8,3% (II), 46,9% (DD), 44,8% (ID),
30,6% (I), 69,4% (D); for YaNBC27 gene - 9,9% (II), 53,4% (DD),
36,7% (ID), 28,2% (I), 71,8% (D); for CCR5 gene - 0,62% (D/DEL),
92,3%(N/N), 7,1% (N/DEL), 4,2% (D), 95,8% (N). The distribution of
the empirical genotypes and allelic frequencies and the indexes of heterozygosity
of all genes were completely conformed to theoretical deviation
of Hardy-Weinberg (p>0,05), except for APOA1 gene (χ 2 =37,2;
p