外周血性染色体异常患者精子染色体分析及植入前遗传学诊断  

Sperm sex chromosome analysis and preimplantation genetic diagnosis of patients with sex chromosome anomalies

作　　者：徐艳文[1] 任秀莲[1] 周灿权[1] 李穗萍[1] 刘颖[1] 张敏芳[1] 庄广伦[1] 

机构地区：[1]中山大学附属第一医院生殖中心,广州510080

出　　处：《中华医学遗传学杂志》2006年第4期431-433,共3页Chinese Journal of Medical Genetics

摘　　要：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 constitution of abnormal spermatozoa from patients with sex chromosome anomalies. Methods Triple color fluorescence in situ bybridization （FISH） was used to detemtine the sex chromosome constitution of spermatozoa from three patients with sex chromosome anomalies （case 1：46,XY/47 ,XXY, case 2：45,XO/46,X, Yqh- , case 3：47,XXY）. The preimplantation genetic diagnosis （PGD） was performed to case 2. Results An increased ratio （2.05：1） of X-bearingto Y-bearingspermatozoawasonlyobservedincase 2, whoalsohad an increased incidence of total abnormal spermatozoa （29.71 % ）. An increased incidence of total abnormal spermatozoa （4.91%） was also observed in case 3. Among the constitution of abnormal spermatozoa, case 2 had the increased proportions of XY18 disomy, O18 monosomy and XO monosomy, while case 3 had an increase proportion of XY18 disomy （ 1.87 % ）. PGD was performed to case 2 and one embryo with XX1818 was selected for implanting.Conclusion Using FISH to detect the sperm sex chromosomes in patients with sex chromosome anomalies can provide the useful information to evaluate the risk of sex chromosome anomalies in preimplantation embryos.

关 键 词：荧光原位杂交 精子 染色体 

分 类 号：R715[医药卫生—妇产科学]