Pasińska Magdalena, Haus Olga, Skonieczka Katarzyna, Slezak Ryszard, Midro Alina T, Stasiewicz-Jarocka Beata, Szczepaniak Małgorzata, Adamczak Rafał, Marcinkowska Anna, Bartusiak Kamilla
Katedry i Zakładu Genetyki Klinicznej Collegium Medicum Uniwersytetu Mikołaja Kopernika w Bydgoszczy.
Wiad Lek. 2006;59(1-2):38-43.
The causes of primary sterility are complex and frequently difficult to elucidate. Cytogenetic anomalies are responsible for sterility in 5-10% infertile couples.
Analysis of genetic background of primary sterility in 35 infertile couples.
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.
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.
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.
原发性不育的病因复杂，常常难以阐明。细胞遗传学异常导致5%-10%的不育夫妇出现不育。
分析35对不育夫妇原发性不育的遗传背景。
外周血淋巴细胞72小时培养、GTG和CBG显带、使用全染色体涂染（WCP）探针进行荧光原位杂交（FISH）。对35对前来进行遗传咨询的不育夫妇中的每位患者进行核型分析。对所有精子异常的男性进行PCR法检测SRY和CFTR基因突变。
在6对夫妇中发现染色体畸变。2名男性被诊断为克氏综合征（47,XXY）。1名女性发现等臂染色体i(Xq)。2名男性发现结构平衡易位；1名男性发现t(15;16)(q13;p13.3)、t(1;19)(p35;q13.3)以及罗伯逊易位t(14;21)(q10;q10)。所有染色体畸变的男性均有精子异常：少精子症、弱精子症、隐匿精子症或无精子症。1名男性存在CFTR基因突变deltaF508，在进行分子检测的精子异常男性中未发现SRY基因突变。
在原发性不育夫妇中，主要是男性为染色体畸变（CA）携带者。鉴于这些夫妇中存在染色体畸变的风险为17.14%，细胞遗传学分析应成为不育症诊断的必要组成部分。
