2008 Barcelona - European Society of Human Genetics

Clinical genetics
ESHG POSTERS
P01. Clinical genetics
P01.001
Most Encountered Genetic Disorders in Egypt: Classification &
Registry
M. O. Elruby;
National Research Center, Cairo, Egypt.
Diseases with genetic bases have been a major health problem to every
society . Heavy economic, social and health burdens are imposed
on the afflicted family as well as the society. In general genetic diseases
are relatively prevalent among the Arab population . Incidence of
congenital malformations among Egyptians ranges from 1,16 to 3,17
% . This is probably due to the high consanguinity rate (20 - 40 %) .
Early diagnosis of various genetic disorders with proper intervention
will reduce the burdens of genetic disorders at the all levels .
A comprehensive classification system is necessary for genetic diseases
in order to provide a framework in which to study the etiology,
pathogenesis and treatment of diseases in an orderly fashion . Such
system gives clinical geneticists a way to organize the health care
needs of their patients. We revised different classifications to determine
which classification to follow. However these classifications were
based on the etiological diagnosis, pathological diagnosis, phenotypic
diagnosis and / or mode of inheritance . Therefore, we established our
own classification, as a modification of the previously mentioned. The
main purpose of our classification is to include four major descriptive
categories (axes), that geneticists consider to identify the genetic disorders
. The Final Report of the study (1/7/2004 - 30/6/ 2007) included
3417 cases. We established an integrated classification for the genetic
disorders referred to Genetic Clinic. This classification considers the
etiological, phenotypic, differential diagnosis and referral axes& is entitled
“Genetic/Diagnostic/Referral Classification
P01.002
Genetics Epidemiology study of Bashkortostan Republic
S. S. Murzabaeva 1 , Y. I. Grinberg 2 , I. M. Khidiyatova 2 , E. K. Khusnutdinova 2 , R.
A. Zinchenko 3 , E. K. Ginter 3 ;
1 Bashkirs state medical university, Ufa, Russian Federation, 2 Institute of Biochemistry
and Genetics of Ufa Science Center of Russian Academy of Sciences,
Ufa, Russian Federation, 3 Research Center for Medical Genetics, Russian
Academy of Medical Sciences, Моscow, Russian Federation.
The results of genetic epidemiological study of five Districts (Burzyansky,
Baimaksky, Abzelilovsky, Salavatsky and Archangelsky) of Bashkortostan
Republic are reviewed . The total size of the investigated
population was 168050 persons, including 135748 southern- east and
northern-east ethnographic group the Bashkir . Medical genetic research
included all population of five districts, indigently of a nationality
and was carried out under the standard report developed in laboratory
genetic epidemiology Research Centre for Medical Genetics . Segregation
analysis demonstrated good agreement between the observed
and expected segregation frequencies for both AR and AD diseases .
The prevalence rates of hereditary disorders (autosomal dominant,
autosomal recessive and X-linked) for urban and rural, Bashkirs and
other ethnic groups were calculated. Significant differences in the
prevalence rates were revealed between the prevalence rates AD and
AR disorders in rural and urban populations . The prevalence rare for
AD and AR disorders was twice lower in the urban populations than
those in the rural ones . The prevalence rate of all Mendelian disorders
varied in the investigated populations from 1 .54 in Baymak sity
from 6 .12 per 1000 persons in Burzyansky District . Spectrum of AD
diseases consisted of 83, spectrum of AR diseases - 48 nosological
forms, and X-linked - 13 forms .
P01.003
the National Register of congenital malformations in moldova:
comparative Analysis for Years 2005-2007
V. V. Egorov, V. C. Sacara, A. Varzar, L. P. Rusu;
National Center of Reproductive Health and Medical Genetics, Chisinau, Republic
of Moldova.
Objectives . Since 1989 conform to Order of Ministry of Health N-129
from 27 .04 .89 was introduced a national system of monitoring of con-
genital malformations (CM) . Assistance in creation of modern National
register of Congenital malformations and hereditary disorders corresponding
to European standards .
Methods . Were obtained 747, 598 and 453 questionnaires for the period
of 2005 - 2007, respectively . Were used standard methods of statistical
analysis .
Results . The prevalence of CM per 10000 births decreased from 2005 to
2007 and was 199 .29 in 2005, 160 .00 in 2006 (X2=15 .795, OR=1 .246,
p