CAJ | 학술논문

目的对1例46,XY,t(3;11)(q27;q13),ins(11;3)(q13;p26p13)伴无精子症患者进行细胞与分子遗传学研究.方法采用外周血淋巴细胞培养、G显带制备染色体,应用多色荧光原位杂交技术进一步分析确定其核型,多重PCR检测Y染色体AZF微缺失.结果该患者涉及3号、11号染色体相互易位,并伴有3号染色体的带插入到11号染色体的四断裂点的复杂易位.AZF所在区域的6个序列标签位点均无微缺失.结论染色体复杂易位可导致男性不育,无精症的遗传因素分析可为其提供更准确的生育咨询.
목적 대1례46,XY,t(3;11)(q27;q13),ins(11;3)(q13;p26p13)반무정자증환자진행세포여분자유전학연구.방법 채용외주혈림파세포배양、G현대제비염색체,응용다색형광원위잡교기술진일보분석학정기핵형,다중PCR검측Y염색체AZF미결실.결과 해환자섭급3호、11호염색체상호역위,병반유3호염색체적대삽입도11호염색체적사단렬점적복잡역위.AZF소재구역적6개서렬표첨위점균무미결실.결론 염색체복잡역위가도치남성불육,무정증적유전인소분석가위기제공경준학적생육자순.
Objective To perform genetic analysis of a complex chromosome rearrangement (CCR) 46,XY, t(3;11)(q27; q13), ins(11;3)(q13;p26p13) in an azoospermic man. Methods Peripheral blood lymphocytes were obtained for karyotyping, and metaphases were studied by muhicolor fluorescence in situ hybridization procedure, Y chromosomal microdeletions in the azoospermia factor (AZF) region were analyzed with multiplex polymerase chain reaction. Results The case was a complex chromosomal translocation between chromosomes 3 and 11 with four breakpoints, and accompanied with a band of chromosome 3 inserting into chromosome 11. No Y-chromosome microdeletions were identified at 6 STS sequences of the AZF loci. Conclusion CCR can have a significant impact on male fertility. Molecular cytogenetic techniques may contribute to improving and personalizing reproductive counseling.