两条染色体复杂易位伴无精子症患者细胞与分子遗传学分析

Genetic analysis of a complex chromosome rearrangemeot iovoiving two chromosomes and four breakpoints in an azoospermic man

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。

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 multicolor 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.