[The results of cytogenetic and molecular genetic examinations in 35 couples with primary sterility].
The causes of primary sterility are complex and frequently difficult to elucidate. Cytogenetic anomalies are responsible for sterility in 5-10% infertile couples.


OBJECTIVE
Analysis of genetic background of primary sterility in 35 infertile couples.


METHODS
72h cultures of peripheral blood lymphocytes, GTG and CBG banding, fluorescence in situ hybrydization (FISH) with whole chromosome painting (WCP) probes. Karyotype analysis was performed in each patient out of 35 infertile couples referred to genetic counsel. SRY and CFTR gene mutation analysis by PCR was performed in all men with abnormal sperm.


RESULTS
Chromosome aberrations were found in 6 couples. Klinefelter syndrome (47,XXY) was disclosed in 2 men. Isochromosome i(Xq) was found in 1 woman. The structural balanced translocations were found in 2 men; t(15;16)(q13;p13.3), t(1;19)(p35;q13.3) and a robertsonian translocation t(14;21)(q10;q10) in one. All men with chromosome aberrations had sperm anomalies: oligozoospermia, astenozoospermia, cryptozoospermia or azoospermia. There was a CFTR mutation, deltaF508, in one man and no SRY mutation in molecularly examined men with sperm abnormalities.


CONCLUSIONS
In couples with primary sterility mainly the men are carriers of chromosome aberrations (CA). Because of 17.14% risk of the presence of chromosome aberrations in these couples, cytogenetic analysis should be an obligatory element of infertility diagnosis.
Pasińska
Magdalena
M
Katedry i Zakładu Genetyki Klinicznej Collegium Medicum Uniwersytetu Mikołaja Kopernika w Bydgoszczy.
Haus
Olga
O
Skonieczka
Katarzyna
K
Slezak
Ryszard
R
Midro
Alina T
AT
Stasiewicz-Jarocka
Beata
B
Szczepaniak
Małgorzata
M
Adamczak
Rafał
R
Marcinkowska
Anna
A
Bartusiak
Kamilla
K
D000328:Adult; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D003582:Cytogenetics / Q000379:methods*; D005260:Female; D024282:Genes, sry / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007247:Infertility, Female / Q000235:genetics*; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008967:Molecular Biology / Q000379:methods*; D017354:Point Mutation / Q000235:genetics
D019005:Cystic Fibrosis Transmembrane Conductance Regulator