通过荧光原位杂交技术对从植入前胚胎获得的卵裂球同时检测X、Y、13、18和21号染色体。
Simultaneous detection of chromosomes X, Y, 13, 18, and 21 by fluorescence in situ hybridization in blastomeres obtained from preimplantation embryos.
作者信息
Smith S E, Toledo A A, Massey J B, Kort H I
机构信息
Reproductive Biology Associates, Atlanta, Georgia 30342, USA.
出版信息
J Assist Reprod Genet. 1998 May;15(5):314-9. doi: 10.1023/a:1022504829854.
PURPOSE
Simultaneous fluorescence in situ hybridization (FISH) was used in a preimplantation genetic diagnosis program to determine which embryos were normal for chromosomes X, Y, 13, 18, and 21.
METHODS
Single blastomeres were disrupted and attached to glass slides using acetic acid and ethanol. Using a ratio mixture of chromosome enumeration DNA probes in combination with locus-specific identifier DNA probes, FISH was performed for the identification of chromosomes X, Y, 13, 18, and 21.
RESULTS
Fourteen couples enrolled in IVF produced 134 embryos for biopsy. Blastomeres subjected to five-color FISH revealed that 22% of embryos were normal for chromosomes X, Y, 13, 18, and 21. In addition, 52% were abnormal and no results could be detected for 25%. Twelve couples underwent embryo transfer, two couples did not receive embryos due to lack of any normal embryos, and three couples became pregnant.
CONCLUSIONS
The simultaneous detection of five-color FISH is a feasible method to detect aneuploidy in preimplantation embryos from women of advanced maternal age.
目的
在植入前基因诊断程序中使用同步荧光原位杂交（FISH）来确定哪些胚胎的X、Y、13、18和21号染色体正常。
方法
使用乙酸和乙醇破坏单个卵裂球并将其附着在载玻片上。使用染色体计数DNA探针与位点特异性标识符DNA探针的混合比例，进行FISH以鉴定X、Y、13、18和21号染色体。
结果
14对接受体外受精（IVF）的夫妇产生了134个用于活检的胚胎。接受五色FISH检测的卵裂球显示，22%的胚胎X、Y、13、18和21号染色体正常。此外，52%的胚胎异常，25%未检测到结果。12对夫妇进行了胚胎移植，2对夫妇因没有正常胚胎而未接受胚胎，3对夫妇怀孕。
结论
五色FISH同步检测是检测高龄产妇植入前胚胎非整倍体的可行方法。
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