Harper J C, Delhanty J D
Galton Laboratory, Department of Genetics and Biometry, University College, London and Institute of Obstetrics and Gynecology, London, UK.
Methods Mol Med. 1996;5:259-68. doi: 10.1385/0-89603-346-5:259.
Analysis of chromosomes in human embryonic nuclei would ideally be achieved by karyotyping. Several studies have used this technique to examine human embryonic chromosomes (1-4), but information is limited, since it is difficult to obtain bandable metaphase spreads. For preimplantation genetic diagnosis (PGD) where only one or maybe two cells are available, karyotyping is not a viable option because of its low success rate per single cell. However, in certain cases, fluorescent in situ hybridization (FISH) can be used, for instance, for sexing embryos for couples at risk of passing on X-linked disorders for which there is, as yet, no specific molecular diagnoses. In addition FISH is useful for couples who are subfertile owing to chromosomal disorders (translocations or gonadal mosaicism). Since these are among the most common reasons for requesting PGD, a laboratory contemplating providing this service should include FISH in its repertoire.
对人类胚胎细胞核中的染色体进行分析，理想情况下可通过核型分析来实现。多项研究已使用该技术检测人类胚胎染色体（1-4），但由于难以获得可显带的中期分裂相，相关信息有限。对于仅能获取一个或至多两个细胞的植入前遗传学诊断（PGD）而言，由于其对单个细胞的成功率较低，核型分析并非可行之选。然而，在某些情况下，可使用荧光原位杂交（FISH）技术，例如，对有X连锁疾病遗传风险且尚无特异性分子诊断方法的夫妇所怀胚胎进行性别鉴定。此外，FISH对因染色体疾病（易位或性腺嵌合体）导致生育力低下的夫妇也很有用。由于这些是申请PGD的最常见原因，考虑提供此项服务的实验室应将FISH纳入其技术范围。
