Jacobs P A, Matsuyama A M, Buchanan I M, Wilson C
Am J Hum Genet. 1979 Jul;31(4):446-57.
The status of X-chromosome replication was studied in twenty-seven 69,XXY and nine 69,XXX human triploids in which the parental origin of the additional haploid set was known from the study of chromosome heteromorphisms. Among the 69,XXY triploids, fourteen had no late replicating X, two had one late replicating X in all cells examined, and eleven had two populations of cells, one with late replicating X chromosome, and one without any. Among the 69,XXX triploids, four had a single late replicating X, and five had two populations of cells, one with one late replicating X, and one with two late replicating X chromosomes. There was no correlation between the parental origin of the triploidy and the type of X-chromosome inactivation. However the number of late replicating X chromosomes was significantly lower in cultures grown from fetal tissue when compared with those grown from extra-embryonic tissue. In cultures derived from extra-embryonic tissue there was a significant correlation between the gestational age of the sample and the proportion of late replicating X chromosomes. The older the specimen, the greater the number of late replicating X chromosomes.
在27例69,XXY和9例69,XXX人类三倍体中研究了X染色体复制状态,通过对染色体异态性的研究,这些三倍体额外单倍体组的亲代来源是已知的。在69,XXY三倍体中,14例没有晚复制X染色体,2例在所有检测细胞中都有一条晚复制X染色体,11例有两种细胞群,一种有晚复制X染色体,另一种没有。在69,XXX三倍体中,4例有一条晚复制X染色体,5例有两种细胞群,一种有一条晚复制X染色体,另一种有两条晚复制X染色体。三倍体的亲代来源与X染色体失活类型之间没有相关性。然而,与从胚外组织培养的细胞相比,从胎儿组织培养的细胞中晚复制X染色体的数量明显更少。在来自胚外组织的培养物中,样本的孕周与晚复制X染色体的比例之间存在显著相关性。标本越老,晚复制X染色体的数量就越多。