1个Y染色体微缺失合并19号染色体臂间倒位的家系分析

Familial Y chromosome microdeletion with pericentric inversion of chromosome 19

目的:对1个男性不育家系进行细胞和分子遗传学分析。方法:分析不育家系中3例男性的临床症状,并采用染色体核型分析、序列标签位点-PCR(STS-PCR)和多重连接依赖探针扩增(MLPA)等方法进行检测。结果:先证者及其哥哥的染色体核型为46,XY,inv(19)(p13.3q13.1),其父亲为46,XY;3例男性均为Y染色体AZFc区缺失携带者,MLPA检测发现三者在AZFb、AZFc区有相同的基因拷贝数的减少。结论:联合应用核型分析、Y染色体STS-PCR和MLPA等多种方法,揭示了1个男性不育家系的遗传学病因。

Objective:To investigate the familial cytomolecular genetics of an infertile male.Methods:We analyzed the clinical phenotypes and karyotypes of three males from the family of an infertile man,detected the sequence-tagged sites(STS)in the AZF deletions of the Y chromosome by multiplex polymerase chain reaction(PCR),and identified the target genes by multiplex ligation-dependent probe amplification(MLPA).Results:The karyotypes of the proband and his brother were 46,XY,inv(19)(p13.3 q13.1)and that of his father was 46,XY.The three males were all carriers of AZFc deletion of the Y chromosome,and all found with the same reduction of the gene copy number in the AZFb and AZFc regions.Conclusion:Combined use of karyotype analysis,Y chromosome STS PCR,and MLPA revealed the genetic causes of the male infertile family.