3+ 4/2002 - Společnost pro pojivové tkáně

i vznik opozice palce. V experimentech jsou
umyší známy delece v HOX komplexu.
Ukazuje se že inverzní mutace HOX genů
mají vztah k herniím. HOX delece genu D vede
k změnám na tzv. handplate.
„I MET A TRAVELLER FROM
AN ANTIQUE LAND“: GENES AS
HISTORY
B. Sykes, Oxford
These days genes may aspire to predicing
the future, but they are also messengers
from the past. Each gene has its own separate
history and has made its own journey
from the deep past to all of us in the present
day. Interpreting the messages genes
tell us about our ancestors, and with it the
history of our species, has changed. It has
shifted from the accumulation of summary
statistics and the state comparisons of one
„population“ with another to the realisation
that the history of our species is the
history of individuals and their actions.
The agens of change has been the uniparental
loci found on mitochondrial DNA
and the Y chromosome which trace the different
histories of men and women. Robust
phylogenes and accurate mutation rates
introduce the fourth dimension of time into
the interpretation of the patterns of genetic
variation. The presentation will be illustrated
by examples ranging from qeustions
on a global dimension to what can be said
of the individual behaviour and lives of our
ancestors.
124
SELECTED ABSTRACT FROM
CONCURRENT SYMPOSIA
PREIMPLANTATION GENETIC
DIAGNOSIS: AN UPDATE
A. H. Handyside
LOCOMOTOR SYSTEM vol. 9, 2002, No. 3+4
Preimplantation genetic diagnosis
(PGD) following in vitro fertilization (IVF),
cleavage stage embryo biopsy and single
cell genetic analysis has become increasingly
established over the last ten years
a viable alternative to conventional prenatal
diagnosis for both chromosomal and single
gene defects (Handyside and Delhanty,
1997). The first pregnancies were established
in 198 in a series of couples at risk of
various X linked recessive diseases by identifying
(unaffected or carrier) female
embryos for transfer (Handyside et al.
1990). Towards the end of 1999 the European
Society for Human Reproduction and
Embryology (ESHRE) PGD Consortium
reported the first detailed clinical data from
16 centres for 392 cykles completed in the
period January 1997 to September 1998
(Geraedts et al. 1999). The overall clinical
pregnancy rate for this series was 17 % per
oocyte retrieval or 22 % per embryo transfer
and data from 82 pregnancies and 79
children was collected. In the latest data,
covering a period from 1994 to May, 2000,
1319 cykles from 25 centres are reported
with the same overall pregnancy rate
together with the details of 163 pregnancies
and 162 children (Geraedts et al.
2000).The current status of PGD will be
briefly reviewed together with prospects
for future developments.