摘要
目的 探讨应用染色体 13/2 1α卫星探针荧光原位杂交 (FISH)技术行产前诊断 2 1三体综合征的价值。方法 选择 10例经产前细胞遗传学检查证实为孕正常胎儿孕妇的羊水细胞 (对照组 )、3例证实为孕 2 1三体胎儿孕妇的羊水细胞 (观察组 ) ,用 13/2 1α卫星探针对未经培养的羊水细胞间期核进行FISH杂交。结果 两组总杂交率分别为 36 7%和 38 6 % ,差异无显著性 (P >0 0 5 )。对照组和观察组含 4个杂交信号的核平均百分比分别为 36 5 %和 3 9% ,含 5个杂交信号的核平均百分比分别为 4 0 %和 36 1% ,差异有极显著性 (P <0 0 1) ,含 5个信号的核百分比 <36 1%可作为 2 1三体综合征的诊断标准。结论 13/2 1α卫星探针间期FISH用于未培养的羊水细胞可以快速、准确地在产前诊断 2
Objective To investigate the prenatal diagnosis of trisomy 21 syndrome using chromosome 13/21α satellite probe fluorescence in situ hybridization (FISH) on uncultured interphase cells from amniotic fluid Methods The interphase amniocytes of 10 fetuses who were detected normal and 3 fetus who were detected trisomy by prenatal cytogenetic diagnosis were selected We did FISH which used chromosome 13/21α satellite probe directly on the uncultured amniocytes of these 13 samples Results The total rate of the hybridization was 36 7% and 38 6% in control group and observation group respectively, showed no significantly difference There were four signals in the nucleus, two groups were 36 5% and 3 9% respectively,there were five signals in the nucleus, two groups were 4 0%and 36 1% respectively. The control group and observation group showed significantly difference by the statistical χ 2 values ( P <0 01) Trisomy 21 syndrome was diagnosed when nucleus of five signals accounted for more than 36 1% Conclusion FISH with Chromosome13/21α satellite probe is a valuable method for rapid prenatal diagnosis of trisomy 21syndrome
出处
《中华妇产科杂志》
CAS
CSCD
北大核心
2001年第2期76-78,共3页
Chinese Journal of Obstetrics and Gynecology
基金
广东省科委重点科技项目(9658)
关键词
原位杂交
荧光
羊水
唐氏综合征
In situ hybridization,fluorescence
Amniotic fluid
Down syndrome
