DETECTION OF ANEUPLOIDY AND CHROMOSOMAL MOSAICISM IN HUMAN EMBRYOS DURING PREIMPLANTATION SEX DETERMINATION BY FLUORESCENT IN-SITU HYBRIDIZATION, (FISH)
DETECTION OF ANEUPLOIDY AND CHROMOSOMAL MOSAICISM IN HUMAN EMBRYOS DURING PREIMPLANTATION SEX DETERMINATION BY FLUORESCENT IN-SITU HYBRIDIZATION, (FISH)
复制标题
DOI：
10.1093/hmg/2.8.1183
复制
发表时间：
1993-08-01
影响因子：
3.5
通讯作者：
WINSTON, RML
中科院分区：
文献类型：
--
作者：
DELHANTY, JDA;GRIFFIN, DK;WINSTON, RML
五对夫妇的风险生产后代与X连锁隐性疾病进行体外受精，以期植入前确定胚胎性别和选择性转移的女性。在授精后第三天，通过胚胎活检取出一个或两个卵裂球，并用于与X和Y染色体特异性DNA探针的双重荧光原位杂交。在两例病例中，移植了两个雌性胚胎，一个妊娠（性别确认）在19周时仍在进行。来自一对夫妇的所有八个胚胎质量都很差，只有一个胚胎可以诊断。在剩下的两个病例中，由于检测到异常数量的X染色体信号，没有胚胎被转移。对未移植的活检胚胎的调查显示，一个胚胎有丝分裂不分离，另一个胚胎有完整的X单体。具有后一种体质的存活胎儿将发展为特纳综合征，并且也将处于X连锁疾病的高风险中。使用荧光原位杂交，而不是聚合酶链反应允许检测异常的X染色体拷贝数，从而防止潜在的异常受精卵的转移。
Five couples at risk of producing offspring with X-linked recessive disease underwent in vitro fertilisation with a view to preimplantation determination of embryo sex and selective transfer of females. On day three post-insemination, one or two blastomeres were removed by embryo biopsy, and used for dual fluorescent in situ hybridisation with X and Y chromosome-specific DNA probes. In two cases, two female embryos were transferred and one pregnancy, (sex confirmed), is ongoing at 19 weeks. All eight embryos from one couple were of such poor quality that diagnosis was possible in one only. In the remaining two cases no embryos were transferred due to the detection of an abnormal number of X chromosome signals. Investigation of the biopsied embryos that were not transferred revealed evidence of mitotic non-disjunction in one and of complete X monosomy in a second. A surviving fetus with this latter constitution would have developed Turner syndrome and would also have been at high risk of X-linked disease. The use of fluorescent in situ hybridisation rather than the polymerase chain reaction allowed the detection of abnormal copy numbers of X chromosomes thus preventing the transfer of potentially abnormal zygotes.