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目的探讨外周血性染色体异常患者的精子染色体组成,评估其胚胎性染色体异常的风险,为胚胎植入前遗传学诊断(preimplantationgeneticdiagnosis,PGD)的应用提供客观依据。方法应用三色荧光原位杂交技术(fluorescenceinsituhybridization,FISH)对3例性染色体异常的患者(例1为46,XY/47,XXY,例2为45,XO/46,X,Yqh-,例3为47,XYY)进行精子X、Y和18号染色体分析,并对例2进行PGD。结果例2的X18∶Y18精子的比例为2.05∶1,总异常精子比例达29.71%,其中XY18、O18和XO均明显高于其它组。例3总异常精子比例占4.91%,XY18占1.87%。对例2进行PGD,移植1个XX1818胚胎。结论通过FISH检测性染色体异常患者的精子,有助于评估其胚胎性染色体异常的风险,从而选择性应用胚胎植入前遗传学诊断。
Objective To investigate the chromosomal composition of sperm in patients with peripheral chromosomal abnormalities and to evaluate the risk of embryonic chromosomal abnormalities, and to provide an objective basis for the application of preimplantation genetic diagnosis (PGD). Methods Three cases of chromosomal abnormalities (46 in case 1, XY / 47 in XXY, 45 in case 2, XO / 46 in X, Yqh in case 3, 47, XYY) for the analysis of sperm X, Y and chromosome 18, and Example 2 for PGD. Results In Example 2, the ratio of X18: Y18 sperm was 2.05: 1, and the proportion of total abnormal sperm was 29.71%. Among them, XY18, O18 and XO were significantly higher than the other groups. Example 3 total abnormal sperm ratio accounted for 4.91%, XY18 accounted for 1.87%. PGD was performed on Example 2, and one XX1818 embryo was transplanted. Conclusion Detection of sperm in patients with chromosomal abnormalities by FISH may be helpful in assessing the risk of embryonic chromosomal abnormalities and thus selectively applying preimplantation genetic diagnosis.