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人类三倍体和四倍体的起源:11例带有染色体标记的病例

Origin of triploidy and tetraploidy in man: 11 cases with chromosomes markers.

作者信息

Kajii T, Niikawa N

出版信息

Cytogenet Cell Genet. 1977;18(3):109-25. doi: 10.1159/000130756.

Abstract

Sixteen triploid and one tetraploid human abortuses were studied for the origin of polyploidy using a sequential Q- and R-banding technique. Ten triploid abortuses provided informative data: one originated in the maternal first meiotic division; five apparently resulted from dispermy; two derived from an error during either the paternal second meiotic division or the first mitotic division; and the last two were of paternal origin. The results indicate that paternal factors, especially dispermy, are the predominant sources of triploidy in man. The tetraploid abortus showed duplication of both the maternal and paternal haploid sets, suggesting normal division of chromosomes and suppression of cytoplasmic cleavage at the first mitotic division. No correlation was found between the origin of polyploidy and the phenotype of the triploid abortuses, nor between the origin of polyploidy and the maternal use of oral contraceptives.

摘要

利用连续的Q带和R带技术,对16例三倍体和1例四倍体人类流产胎儿进行了多倍体起源的研究。10例三倍体流产胎儿提供了有用的数据:1例起源于母本第一次减数分裂;5例显然是双精子受精的结果;2例源于父本第二次减数分裂或第一次有丝分裂期间的错误;最后2例来自父本。结果表明,父本因素,尤其是双精子受精,是人类三倍体的主要来源。四倍体流产胎儿显示母本和父本单倍体组均有复制,提示染色体正常分裂且第一次有丝分裂时细胞质分裂受到抑制。未发现多倍体起源与三倍体流产胎儿的表型之间存在相关性,也未发现多倍体起源与母亲使用口服避孕药之间存在相关性。

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