Dos Santos Godoy Gleice Cristina, Galera Bianca Borsatto, Araujo Claudinéia, Barbosa Jacklyne Silva, de Pinho Max Fernando, Galera Marcial Francis, de Medeiros Sebastião Freitas
Department of Basic Sciences, Medical School, UFMT, Cuiabá, MT, Brazil.
Faculty of Biology, Federal University of Mato Grosso, UFMT, Cuiabá, MT, Brazil.
Clin Med Insights Reprod Health. 2014 Aug 11;8:51-7. doi: 10.4137/CMRH.S15475. eCollection 2014.
To determine the prevalence of chromosomal abnormalities and microdeletions on Y chromosome in infertile patients with oligozoospermia or azoospermia in Mato Grosso state, Brazil.
This cross-sectional study enrolled 94 men from infertile couples. Karyotype analysis was performed by lymphocyte culture technique. DNA from each sample was extracted using non-enzymatic method. Microdeletions were investigated by polymerase chain reaction (PCR).
With the use of cytogenetic analysis, five patients (5.3%) had abnormal karyotype, one azoospermic patient (1.1%) had karyotype 46,XY,t(7;1) (qter-p35), one (1.1%) with mild oligozoospermia had karyotype 46,XY,delY(q), and two other azoospermic patients had karyotype 47,XXY, consistent with Klinefelter syndrome (KS). One of them (1.1%) with severe oligozoospermia had karyotype 46,XY,8p+. Microdeletion on Y chromosome was found in the azoospermia factor c (AZFc) region in only one azoospermic patient (1.1%).
The prevalence of genetic abnormalities in oligo/azoospermic Brazilian men from infertile couple was 5.3%, and microdeletion on Y chromosome was not a common finding in this population (1.1%).
确定巴西马托格罗索州少精子症或无精子症不育患者的染色体异常及Y染色体微缺失的患病率。
这项横断面研究纳入了94对不育夫妇中的男性。采用淋巴细胞培养技术进行核型分析。每个样本的DNA采用非酶法提取。通过聚合酶链反应（PCR）检测微缺失。
采用细胞遗传学分析，5例患者（5.3%）核型异常，1例无精子症患者（1.1%）核型为46,XY,t(7;1)(qter-p35)，1例轻度少精子症患者（1.1%）核型为46,XY,delY(q)，另外2例无精子症患者核型为47,XXY，符合克兰费尔特综合征（KS）。其中1例重度少精子症患者（1.1%）核型为46,XY,8p+。仅1例无精子症患者（1.1%）在Y染色体无精子症因子c（AZFc）区域发现微缺失。
巴西不育夫妇中少精子症/无精子症男性的遗传异常患病率为5.3%，Y染色体微缺失在该人群中并不常见（1.1%）。
