CAJ | 학술논문

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.
목적 분석1례감합형18삼체소정자환자정자18、X、Y염색체수목기변병진행식입전유전학진단(preimplantation genetic djagnosis,PGD).방법 채용G대급형광원위잡교(fluorescence in situ hybridjzation,FISH)대중기분렬상진행분석,응용삼색탐침CEP18、CEPY、Tel Xq/Yq대환자정자진행FISH분석,동시이1명염색체정상남성적정상정액작위대조,병대감합형18삼체환자진행PGD.결과 환자정자18이체솔、성염색체이체솔화이배체솔분별위0.63%、0.94%화0.87%,여대조조상비(0.16%、0.35%、0.31%)차이유통계학의의.환자진행1개PGD주기적치료、활검4개배태,이식정상적XY1818、XX1818각1배태후획득림상임신.결론 정자FISH분석가위기제공경준학적유전자순급지도식입전유전학진단,FISH-PGD가유효지응용우감합형18삼체적식입전유전학진단.
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.