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Frequent variations, small effects
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The familial occurance of very rare diseases is one
of the characteristics of human genetics. Mendelian
rules apply to the inheritance of such phenotypes and
so far they have been described for more than a 1000
different diseases. The identification of mutated genes
for such disorders has helped to understand basic principles
of disease etiology and has helped to diagnose and in
some cases to treat patients. The process of assigning
the sequence variation in particular genes to particular
disease phenotypes is ongoing and numerous reports at
the ESHG meeting in Munich are dealing with the identification
of rare mutations in one of the 30000 human gene, most
of which have not even got a name so far.
More and more, human geneticists are also dealing with
a type of sequence variation that is common and which
can be related to common disorders. Frequent variation
means that a considerable proportion of individuals
in a given population bears a particular sequence which
has an effect on disease susceptibility. 20% of a population
for instance might have an increased risk for a common
disorders such as stroke, while 80% has a relatively
reduced risk. Such sequence variations are not called
mutations, - this term is reserved for the rare variants
- but polymorphisms, meaning frequent sequence variation.
An international research consortium is currently out
to determine and list the common sequence variation
in human populations (HapMap project). Recent studies
clearly show that the most of such variation is located
in regulatory regions of genes and that the effects
excerted by such variation is very small. In most cases,
the effects are hardly measurable. Very large numbers
of patients with particular phenotypes have to be compared
with healthy controls in order to demonstrate these
effects. Progress in this field will be reported at
the meeting for several so called complex disorders
including asthma, cancer and depression.
At the ESHG meeting,
one symposium (S2, Sunday 17:00)) and several workshops
(W3, Sunday , 13:15 and W11, Monday, 13:15) will deal
with aspects of common sequence variation in man.
Dr. Cornelia van Duijn, Amsterdam
Dr. Lon Cardon, Oxford
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Pressekontakt
Dr. rer. biol. hum. Christine Scholz
Deutsche Gesellschaft für Humangenetik e.V.
Inselkammerstr. 5
82008 München-
Unterhaching
Tel. (0)89/61 45 69 59
Fax (0)89/55 02 78 56
Email presse@gfhev.de
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