2009 Vienna - European Society of Human Genetics

Cytogenetics
lence and type of AZF microdeletions comparing to present world studies
and the incidence of the microdeletions in Czech infertile males
falls within the range published in other countries.
P03.188
male infertility - an association study by GGc and cAG repeats
from gene AR analysis
A. Fernandes1 , R. Gonçalves1 , S. Fernandes2 , A. Barros2,3 , A. Brehm1 ;
1 2 Human Genetics Laboratory, University of Madeira, Funchal, Portugal, Genetics
Department, Faculty of Medicine, University of Porto, Porto, Portugal, 3Cen tre of Reproductive Genetics A Barros, Porto, Portugal.
Background: The human androgen receptor (AR) gene is located on
X chromosome, region q11-12 and contains two polymorphic trinucleotide
repeats of CAG and GGC, which code for polyglutamine and
polyglycine tracts in the N-terminal domain where the receptor activity
resides. Longer repeats induce decrease of transactivation function
in the AR receptor and weaken an anti-proliferative effect on various
steroid-related tissues. Shorter GGC and CAG repeats result in higher
receptor-activity of AR that inhibits the growth of these steroid-related
tissues. In fertile men the number of CAG repeats varies between 10
and 35 while GGC repeats varies between 4 and 24.
Methods: A group of 108 infertile men and other composed of 99 subjects
with proven fertility were selected to be used in this study. Differences
in CAG and GGC frequencies were calculated with Fisher’s
exact test. P