2008 Barcelona - European Society of Human Genetics

Cytogenetics
abnormalities followed by abdominal wall defects, central nervous system
and diaphragmatic hernia. Abnormal amniotic fluid volume was
present in 6 cases .
Conclusion: Although polymorphic variants are considered to be silent
abnormalities within karyotype analysis, our study showed elevated
rates of those variants in our reference center if compared to the general
population which might indicate a strong correlation between the
onset of an abnormal phenotype and karyotype polymorphic variants .
P02.182
Chromosome bands specially affected in fishermen who
participated in the clean-up of the Prestige oil spill
G. Monyarch Gros1 , G. Rodriguez Trigo2 , J. P. Zock2 , F. Gómez2 , H. Verea2 , J.
A. Barberà2 , M. D. Coll1 , F. Pozo-Rodríguez2 , C. Fuster1 ;
1 2 Universitat Autonoma de Barcelona, Bellaterra, Spain, Grupo SEPAR-Prestige,
Barcelona, Spain.
Context The oil tanker Prestige wrecked and produced contamination
of the coast of Galicia (Spain), in 2002 . A great number of people participated
in the cleaning-up tasks .
Objectives To evaluate potential genotoxic effects in lymphocytes of
the fishermen exposed, we analyzed the presence of chromosome
alterations .
Methodology We analyzed 50 clean-up work and 46 non-exposed fishermen
from 800 fishermen that were previously interviewed about the
details of their cleaning-up tasks. The fishermen who were non-smokers
and in good health were included in exposed (E) group (>15 days
of cleaning-up tasks at least four hours per day) and non-exposed
(NE) group . The collection of the samples was performed between
July 2004 and February 2005 . Peripheral lymphocytes were cultured .
Breakpoints implicated in chromosomal abnormalities were identified
by G-banding .
Results Comparison of cytogenetic data between the E and NE groups
showed significant differences for: (i) the proportion of total chromosome
lesions (E:67 lesions /4,521 metaphases; NE:35/4,859; P= 0.0079),
and (ii) the proportion of structural chromosome alterations (E:92
structural alterations/1,368 metaphases karyotyped; NE:32/1,285; P<
0.0001) . Statistical analysis of the 112 breakpoints implicated in these
chromosomal abnormalities showed that seven bands were specially
affected in the E group: 7p15, 7q33, 9q34, 13q32, 16p13 .3, 18q23 and
Xq21 . In addition, in the NE group the bands most affected by the 60
breakpoints found were: 1q21, 11q23 and 14q23 .
Conclusion Participation in clean-up tasks of oil spills may result in
prolonged genotoxic effects lasting two years after exposure .
Financial support: FIS (PI070086), SEPAR, Red Respira (ISCIII
C03/11; C03/09).
P02.183
Primary ovarian failure associated with pericentric inversion of
chromosome 3
V. B. Chernykh, V. A. Galkina, O. V. Barkova, T. V. Zolotukhina;
Research Centre for Medical Genetics, Russian Academy of Medical Sciences,
Moscow, Russian Federation.
We report on a patient with primary ovarian failure and pericentric
inversion of chromosome 3 . Female was referred for genetic examination
because of secondary amenorrhea . Menarche occurred at the
age of 14 years; menses were irregular and stopped three years later .
Patient had no additional clinical signs . At the age of 19 years she’s
height was 167 cm, weight 54 kg . Hormone tests revealed a high level
of LH and FSH, with low level of estradiole (hypergonadotropic hypogonadism)
. Pelvic ultrasonography displayed the hypoplasia of uterus
and ovaries; fallopian tubes were normal . Histopatholgy of gonads revealed
dysgenetic ovarian tissue with single follicles . Her lymphocyte
karyotype was 46,XX,inv(3)(p24 .2;q21) .
The patient’s mother with similar inversion had irregular menstrual cycle
. She was reported to have seven pregnancies, two of which have
ended with births, and five pregnancies - medical abortions. The oldest
sister of the patient was healthy and had regular menses . The karyotypes
of she’s eldest sister and father was normal .
A number of genes involved in female germ cells differentiation and
ovarian cancer have been mapped in both short and long arms of the
human chromosome 3 . Probably, ovarian failure was resulted from this
pericentric inversion .
P02.184
Prenatal diagnosis by QF-PcR: a case with partial trisomy of
chromosome 13
C. Curcio 1 , C. Lodrini 1 , A. Biasi 1 , C. Melles 1 , L. Spaccini 2 , D. A. Coviello 1 ;
1 Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena,
Milan, Italy, 2 Istituti Clinici di Perfezionamento, Ospedale Buzzi, Milan, Italy.
QF-PCR is a well established method for the rapid prenatal diagnosis
of the most common chromosomal aneuploidies (chromosomes 13,
18, 21 and sexual) .
This technique provides fast results and it is coupled with the conventional
cytogenetic analysis on samples of women with ultrasound
abnormalities at different gestational weeks, failure of long term culture
and in order to differentiate twins .
Here we report a case of pregnancy with ultrasound findings of multiple
fetal malformations: QF-PCR performed on amniotic fluid didn’t show
numerical anomalies for chromosomes 18 and 21; it also identified the
presence of two X chromosomes, associated to female sex .
About chromosome 13, the three specific chromosome polymorphic
STR markers gave different results: D13S631 and D13S258 located in
13q31-32 and 13q21 respectively, suggested a possible trisomy, while
the STR D13S742, located in 13q11-13q12 .1, showed a normal chromosomal
pattern .
The cytogenetic analysis confirmed the presence of an additional
marker belonging to chromosome 13 .Although we agree that QF-PCR
cannot substitute the traditional cytogenetic analysis, this case brings
out its ability to provide reliable and rapid results even in case of partial
chromosomal aneuploidies of the examined chromosomes .
P02.185
Genomic instability in blood and fibroblasts submitted to
controlled cell phone radiation levels.
J. K. R. Heinrich 1 , A. M. Almeida 2 ;
1 CAISM/UNICAMP, Campinas, Brazil, 2 Foundation CPqD, Campinas, Brazil.
OBJECTIVE To evaluate genomic instability characterized by multiple
targets of investigation both in conventional and molecular cytogenetics
and apoptosis . The results comprise a 4-year joint project between
a University and a Research Foundation .
METHODS: We have investigated the effects of AMPS, CDMA and
GSM cell phone radiation in cultured blood samples and skin fibroblasts
cell lines after radiation exposure in a specially designed exposition
set up (TEM CELL) at SAR levels from 0,8 to 10W/kg . After
the exposition, the cells were applied into different assays such as
conventional cytogenetic analysis for structural and numerical abnormalities,
micronuclei frequency, HER-2, C-MYC and TP53 gene status
through FISH, CGH profile and apoptosis-related proteins.
RESULTS: Genomic changes such as chromosomal breaks, translocations,
marker chromosomes and aneuploidy, when compared to
the controls, were detected in SAR levels above 5W/kg as well as
the increase of micronuclei frequency above 10W/kg. CGH profiles
and FISH analysis did not show a significant difference between the
controls and the exposed samples . It was observed a trend for the
detection of different genomic instability processes above SAR limits
of 5 and 10W/kg .
CONCLUSION: As genomic instability and chromosome damage are
frequently related to tumorigenesis, our findings support the hypothesis
of a dose-dependent positive effect of RF radiation on the genome
of cells and also give further evidence to suggest continuous cytogenetic
investigation of occupationally exposed individuals to SAR levels
above the accepted international limits . Financial support: FUNTTEL/
Brazil
P02.186
Radioinduced bystander effect revealed in vitro and in vivo in
mixed human lymphocytes culture
O. V. Shemetun, O. A. Talan, M. A. Pilinskaya;
Research Centre of Radiation Medicine, Kijiv, Ukraine.
The new methodic approach to investigation of radioinduced bystander
effect in somatic human cells with help of G-banding cytogenetics had
been elaborated . The frequency of chromosome aberrations in proposed
by us model system - “mixed human peripheral blood lymphocytes
culture” consisted of cells differed on cytogenetic sex markers
(XX, XY) and some morphological chromosome peculiarities had been
studied . It had been shown that joint cultivation of intact lymphocytes