Kuo H C, Ogilvie C M, Handyside A H
Department of Obstetrics and Gynaecology, St. Thomas' Hospital, London, UK.
J Assist Reprod Genet. 1998 May;15(5):276-80. doi: 10.1023/a:1022588326219.
Our purpose was to assess the effect of chromosomal mosaicism in cleavage-stage human embryos on the accuracy of single-cell analysis for preimplantation genetic diagnosis.
Multicolor fluorescence in situ hybridization with X, Y, and 7 or X, Y, 7, and 18 chromosome-specific probes was used to detect aneuploidy in cleavage-stage human embryos.
Most nuclei were diploid for the chromosomes tested but there was extensive mosaicism including monosomic, double-monosomic, nullisomic, chaotic, and haploid nuclei.
Identification of sex by analysis of a single cleavage-stage nucleus is accurate but 7% of females are not identified. One or both parental chromosomes 7 were absent in at least 6.5% of the nuclei. With autosomal recessive conditions such as cystic fibrosis, carriers would be misdiagnosed as normal or affected. With autosomal dominant conditions, failure to analyze the affected parents allele (1.6-2.5%) would cause a serious misdiagnosis and analysis of at least two nuclei is necessary to reduce errors.
我们的目的是评估人类卵裂期胚胎中的染色体嵌合现象对植入前遗传学诊断单细胞分析准确性的影响。
使用X、Y和7号或X、Y、7号及18号染色体特异性探针进行多色荧光原位杂交，以检测人类卵裂期胚胎中的非整倍体。
所检测染色体的大多数细胞核为二倍体，但存在广泛的嵌合现象，包括单体、双单体、缺体、混乱型和单倍体细胞核。
通过分析单个卵裂期细胞核来鉴定性别是准确的，但7%的女性无法被鉴定出来。至少6.5%的细胞核中不存在一条或两条亲代7号染色体。对于诸如囊性纤维化等常染色体隐性疾病，携带者可能会被误诊为正常或患病。对于常染色体显性疾病，未能分析患病父母的等位基因（1.6 - 2.5%）会导致严重误诊，因此有必要分析至少两个细胞核以减少错误。
