CAJ | 학술논문

目的探讨Y染色体臂间倒位患者精子减数分裂形成中性染色体的分离规律.方法采用G带、C带及荧光原位杂交(fluorescence in situ hybridization,FISH)对中期分裂相进行分析.应用三色探针CEPX、Tel Xp/Yp、Tel Xq/Yq对5例inv(Y)(p11.1q11.2)患者精子进行FISH,同时以染色体正常男性的正常精液作为对照.结果 5例inv(Y)(p11.1q11.2)精于性染色体数目及重组Y染色体异常率与对照组比差异无统计学意义.结论 inv(Y)(p11.1q11.2)患者精子无明显性染色体数目与结构异常,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.
목적 탐토Y염색체비간도위환자정자감수분렬형성중성염색체적분리규률.방법 채용G대、C대급형광원위잡교(fluorescence in situ hybridization,FISH)대중기분렬상진행분석.응용삼색탐침CEPX、Tel Xp/Yp、Tel Xq/Yq대5례inv(Y)(p11.1q11.2)환자정자진행FISH,동시이염색체정상남성적정상정액작위대조.결과 5례inv(Y)(p11.1q11.2)정우성염색체수목급중조Y염색체이상솔여대조조비차이무통계학의의.결론 inv(Y)(p11.1q11.2)환자정자무명현성염색체수목여결구이상,정자FISH분석가위기제공경준학적유전자순급지도식입전유전학진단.
Objective To analyze the sex chromosome meiotic segregation in inv(Y)patients by fluorescence in situ hybridization(FISH).MethodsConventional cytogenetic procedures(GTG and CBG banding)and FISH were performed on metaphase chromosome.Three-color FISH was performed on sperm samples using a probe mixture containing CEPX,Tel Xp/Yp and Tel Xq/Yq to investigate the sex chromosome segregation of five inv(Y)(p11.1q11.2)carriers.A healthy man with normal semen parameters was used as control.Results There was no statistical difference in the abnormal sex chromosome number and recombination frequencies in each spermatozoon from the patient in comparison with that in the control.Conclusion There was no apparent sex chromosome abnormality in the sperm of the inv(Y)(D11.1q11.2)carriers.Sperm-FISH allows further understanding of the sex chromosome segregation pattern and an accurate genetic counseling.