2009 Vienna - European Society of Human Genetics

Evolutionary and population genetics, and Genetic epidemiology
of both HVRI and HVRII would be very informative for forensic practice
in Bulgaria.
This study was supported by the National Science Fund of Bulgarian
Ministry of Education and Science, grant VU-L-204/06
P10.60
mitochondrial Genome Diversity in tungusic-speaking
Populations (Even and Evenki) and Resettlement of Arctic
siberia After the Last Glacial maximum
I. O. Mazunin, R. I. Sukernik, E. B. Starikovskaya;
Institute of Cytology and Genetics, Novosibirsk, Russian Federation.
The present study includes the Even/Evenki, hunters and reindeerbreeders,
sampled from a few localities scattered across their vast
geographic range encompassing low Yana-Indigirka-Kolyma in the
west and the Sea of Okhotsk coast in the east. The mtDNA data show
a very close affinity of the Even/Evenki with the Yukaghir, typical reindeer
hunters, dominating in extreme northeastern Siberia until the
middle of 18th century but now being on the brink of extinction. We
found that the majority of mtDNA diversity in the Tungusic-speaking
populations was accounted for by Siberian-East Eurasian lineages C2,
C3, D2, D3, D4-D9 and G1. The similarity in the haplogroup C and D
mtDNA intrinsic variation between the Even and Yukaghir populations
is pronounced and indicates that the Even/Evenki harbor an essential
portion of the ancestral Yukaghir pool. The phylogeography of the D4-
D9 point to an early Neolithic phase expansion initiated northward to
the northern and eastern perimeters of former Beringia. Concerning
unique D2* lineage (Volodko et al. 2008), the network analysis encompassing
four complete sequences, three of the Yukaghir from the low
Indigirka-Kolyma region and one of the Evenk from the upper reaches
of the Aldan River would suggest that the founding haplotype (1935-
8683-14905) for D2* originated within western part of former Beringia.
In the meanwhile, the core of the Even/Evenki mtDNA pool residing
in the midst of the Yukaghir ancient territory would represent a recent
amalgamation of the remnants of the Yukaghir and northern Tungusicspeakers
(Even/Evenki) originated in the mid-Amur region.
P10.61
the monitoring results of the newborn congenital development
defects (cDD) in Rostov region.
T. I. Valkova, S. S. Amelina;
Rostov regional clinical hospital, Rostov-on-Don, Russian Federation.
Children CDD monitoring in Rostov region has been taking since
01/01/2000. Taken research enabled made possible to identify common
CDD rate and newborn strict account anomalies’ frequency,
which were 15.32±0.37‰ and 8.66±0.28‰ respectively. Multiply
congenital development defects (MCDD) frequency was 3.44±0.18‰
(1:291). CDD structure analysis displayed that MCDD keep second
place after heart anomalies and form 22.47% from general diseases
quantity. Analysis which was taken according with the prevalence rate,
displayed that isolated CDD form were 77.53%, MCDD - 12.99%,
chromosomal anomalies - 9.48%, according with etiology - multifactorial
CDD - 82.50%, chromosomal anomalies - 9.48%, monogenic diseases
- 8.02%. The frequencies of CDD according with etiology were
made up: multifactorial - 12.64±0.33‰, chromosomal - 1.45±0.11‰
and monogenic - 1.23±0.10‰. MCDD structure was presented by
unspecified complexes - 48.18%, chromosomal anomalies - 42.19%,
monogenic syndromes MCDD - 8.85%. They are including autosomal
dominant (6.77%), autosomal recessive (1.56%), X-linked (0.52%)
and unknown etiology syndromes (0.78%). Taken genetic consultation
of families made possible to diagnose 22 monogenic syndromes.
Children overall chromosomal anomalies rate in Rostov region formed
1.45±0.11‰ (1:689), among them which consisted of Down syndrome
, Patau syndrome, Turner syndrome, Edwards syndrome, structural
chromosomal aberrations (18q-) and (5p-). Patau syndrome and Edwards
syndrome were attended by heavy forms of congenital heart
anomalies, which lead to high infant mortality affected them in the first
day after born, and according to this, low detectabilities of this syndromes
in Rostov region. The received results are conformed to the
Russian Federal Register’s data and EUROCAT.
P10.62
High-resolution melting analysis for the genotyping of an Alu
insertion/deletion polymorphism at the myotonic dystrophy type
1 locus
J. Radvansky1 , M. Surovy1 , A. Ficek1,2 , G. Minarik1 , L. Kadasi1,2 ;
1 2 Comenius University, Faculty of Natural Sciences, Bratislava, Slovakia, SAS,
Institute of Molecular Physiology and Genetics, Bratislava, Slovakia.
Myotonic dystrophy type 1 (DM1) is the most common autosomal dominant
neuromuscular disorder of adults associated with unstable expansions
of a (CTG)n repeat tract in the 3´-untranslated region of the
DMPK (Dystrophia Myotonica Protein Kinase) gene, on chromosome
19q13.3. Haplotype analyses demonstrated a complete allelic association
of DM1 causing alleles with several intragenic and extragenic
polymorphisms among which the Alu insertion/deletion polymorphism
located 5 kb telomeric to the (CTG)n repeat tract is one of the most
studied. In patients of European and Asian ancestry the larger allele
(Alu+) was found to be in complete linkage disequilibrium with DM1
causing alleles. The aims of our study were to design a simple, rapid
and reliable method for genotyping the Alu insertion/deletion polymorphism
and to study the status of this polymorphism in conjunction with
the number of (CTG)n repeats on DM1 and healthy chromosomes in
Slovak population. For rapid genotyping of this locus we successfully
combined the previously described three-primer PCR amplification
protocol (with modified primers) and high-resolution melting (HRM)
analysis using a 96-well LightScanner and a fluorescent DNA binding
dye. In sample of Slovak DM1 patients all of the identified DM1
expanded alleles were found to be in association with the Alu(+) allele.
This fact together with the finding of all large-sized normal alleles being
also on the Alu(+) background is consistent with the hypothesis that
alleles with more than 18 CTG repeats may form a pool of unstable
alleles that may constitute a reservoir for recurrent DM1 mutations.
P10.63
A retrospective study of neural tube defects
V. Filip1 , C. Skrypnyk2 , E. Popescu3 ;
1Clinical Hospital of Obstetrics and Gynecology, Neonatology Unit, Oradea,
Romania, 2University of Oradea, Genetics Department, Oradea, Romania,
3Clinical Hospital of Obstetrics and Gynecology, Anatomic Pathology Unit,
Oradea, Romania.
Neural tube defects (NTDs) are one of the most common birth
defects,occurring in approximately one in 1,000 live births, caused
by a combination of multiple genes and multiple environmental factors.
We present an overview of 315 NTDs cases registred in Clinical
Hospital of Obstetrics and Gynecology from Oradea (2,54% of babies
born alive)with a relatively constant distribution along the studied interval
1984-2008. The most frequent NTDs were represented by hydrocephaly(37,46%),
spina bifida (30,15%)and cephalocele (17,46%).
Most cases come from mothers of 20-25 years of age and it was their
first pregnancy in 52,06% cases. We notice a higher incidence of these
abnormalities in the female sex (55,23%). 55,87 % of cases were born
prematurely. Most of the NTDs babies born alive had a good clinical
condition at birth, with an Apgar score of 10-7. Hydrocephaly was the
first cause of neonatal death in 54.92% of the cases.
The genetic evaluation NTDs cases concluded a possible multi-factorial
polygenic heredity in most of the cases, in absence of a suggestive
family history the monogenic forms being only presupposed. In cases
that associated NTDs with multiples annomalies we suspected a possible
chromosomal heredity. The maternal gestational diabetes was
incriminated in 1,6% cases. Maternal hyperthermia during the embryogenesis
was suspected in 1,2% cases. Aminopterion and the valproic
acid, teratogenic factors associated for certain with NTDs weren’t identified
in the preconceptional history and in the first trimester of pregnancy
in none of the cases evaluated retrospectively or prospectively.
P10.64
the prevalence of 657del5 mutation of the NBN gene in the Lviv
Region of Ukraine
H. R. Akopyan;
Institute of Hereditary Pathology of Academy of Medical Sciences of Ukraine,
Lviv, Ukraine.
Nijmegen breakage syndrome (NBS) is a rare chromosomal instability
disorder, characterised by microcephaly, facial dismorphism, growth
retardation, immunodeficiency, hypersensitivity to radiation and a high