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目的:报告1个父子间AZFc缺失自然遗传的罕见家系,探讨该家系相同缺失类型导致不同临床表型的可能机制。方法:应用G显带技术进行染色体检查;通过对12个序列标签位点(STS)的多重PCR扩增,检测Y染色体微缺失;应用DNA测序技术检测DAZ基因在常染色体上的同源基因DAZL单核苷酸多态性(SNP)。结果:先证者及其父亲和弟弟的核型均为46,XY,且Y染色体微缺失位点完全一致,包括无精子症因子C区(AZFc)的sY152,sY157,sY242,sY254,sY255,sY239。但3者的临床表型各异:父亲具有正常生育能力,先证者及弟弟均不育,精子密度呈年龄依赖性下降,且弟弟伴左侧隐睾。SNP分析显示,3者的外显子2、3的基因型均相同。结论:该家系中相同缺失类型导致不同临床表型与DAZL基因多态性无关,可能与其他基因或环境因素有关。
OBJECTIVE: To report a rare family with naturally inherited AZFc deficiency between father and son and to explore the possible mechanisms by which the same deletion type in this family lead to different clinical phenotypes. Methods: Chromosome examination was performed by G-banding technique. Y chromosome microdeletion was detected by multiplex PCR amplification of 12 sequence tagging sites (STS). The DAZ gene of DAZ gene on autosomes was detected by DNA sequencing Single nucleotide polymorphism (SNP). Results: The karyotypes of probands, their father and brother were all 46, XY, and the site of Y chromosome microdeletions was identical, including sY152, sY157, sY242, sY254 and sY255 of AZFc, sY239. However, the three clinical phenotypes vary: the father has normal fertility, proband and brother are sterile, sperm density was age-dependent decline, and his brother with left cryptorchidism. SNP analysis showed that the three exons 2, 3 genotypes are the same. CONCLUSION: The same type of deletion in this pedigree results in different clinical phenotypes unrelated to DAZL gene polymorphism, which may be related to other genes or environmental factors.