一例嵌合型18三体少精子症患者精染色体分析及植入前遗传学诊断  

Sperm chromosome analysis and preimplantation genetic diagnosis in an infertile male with mosaic trisomy 18

作　　者：罗玉琴[1] 钱羽力[2] 朱瑞建[1] 叶英辉[2] 朱宇宁[1] 金帆[2] 

机构地区：[1]浙江大学医学院附属妇产科医院检验科,杭州310006 [2]浙江大学医学院附属妇产科医院生殖内分泌科,杭州310006

出　　处：《中华医学遗传学杂志》2010年第4期367-370,共4页Chinese Journal of Medical Genetics

基　　金：基金项目：国家重点基础研究发展计划（2007CB948104）;浙江省自然科学基金（Z207021）;浙江省医药卫生科学研究基金（2010KYB065）

摘　　要：目的 分析1例嵌合型18三体少精子患者精子18、X、Y染色体数目畸变并进行植入前遗传学诊断（preimplantation genetic djagnosis,PGD）.方法 采用G带及荧光原位杂交（fluorescence in situ hybridjzation,FISH）对中期分裂相进行分析,应用三色探针CEP18、CEPY、Tel Xq/Yq对患者精子进行FISH分析,同时以1名染色体正常男性的正常精液作为对照,并对嵌合型18三体患者进行PGD.结果 患者精子18二体率、性染色体二体率和二倍体率分别为0.63%、0.94%和0.87%,与对照组相比（0.16%、0.35%、0.31%）差异有统计学意义.患者进行1个PGD周期的治疗、活检4个胚胎,移植正常的XY1818、XX1818各1胚胎后获得临床妊娠.结论 精子FISH分析可为其提供更准确的遗传咨询及指导植入前遗传学诊断,FISH-PGD可有效地应用于嵌合型18三体的植入前遗传学诊断.Objective To analyze the numerical aberration rate of X, Y and chromosome 18 in sperms from an oligozoospermic male with mosaic trisomy 18 and to perform preimplantation genetic diagnosis （PGD） for the couple. Methods G-banding and fluorescence in situ hybridization （FISH） were performed on metaphase chromosome. Sperm was analyzed in three-color FISH with a probe mixture containing CEP18, CEPY and Tel Xq/Yq. A healthy man with normal semen parameters was used as control. Results Significant difference in the rates of disomy for chromosome 18 （0. 63% vs. 0. 16%） and the gonosomes （0. 94% vs. 0. 35%） and diploidy （0. 87% vs. 0. 31%） was found in the spermatozoa between the patient and the control. After four embryos were biopsied in one PGD cycle, two embryos with XY1818 and XX1818 were selected for implanting and clinical pregnancy was ongoing. Conclusion SpermFISH allows further understanding of aneuploidy rate and accurate genetic counseling. FISH-PGD was effective for patient with mosaic trisomy 18.

关 键 词：嵌合型18三体 荧光原位杂交 精子 植入前遗传学诊断 

分 类 号：R698[医药卫生—泌尿科学]