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双雄三倍体小鼠胚胎的性染色体组成及植入后早期发育

The sex-chromosome constitution and early postimplantation development of diandric triploid mouse embryos.

作者信息

Kaufman M H, Speirs S, Lee K K

机构信息

Department of Anatomy, University Medical School, Edinburgh, UK.

出版信息

Cytogenet Cell Genet. 1989;50(2-3):98-101. doi: 10.1159/000132732.

Abstract

Diandric triploid mouse embryos were produced by standard micromanipulatory techniques, using eggs isolated from female mice with a normal chromosome constitution that had been mated to homozygous Rb(1.3)1Bnr males (which carry a large metacentric "marker" chromosome, viz., a Robertsonian translocation involving chromosomes 1 and 3). The tripronucleate embryos were transferred to the oviducts of pseudopregnant mice, which were subsequently autopsied at about midday on the 10th day of gestation. Although a relatively small number of the isolated conceptuses consisted of morphologically abnormal egg-cylinder-like structures or empty gestational sacs, most were at clearly distinguishable embryonic stages, from the primitive streak stage to embryos with about 20 pairs of somites present. These embryos all appeared to be morphologically normal but were substantially smaller than normal (diploid) fertilized embryos analyzed at similar stages of development. A total of 63 diandric triploid conceptuses were recovered and analyzed cytogenetically. They were G-banded to determine their sex-chromosome constitution and confirm their diandric triploid status. No obvious difference was observed in the developmental potential of the 58,XXX class of diandric triploids, compared to that of the 58,XXY class. The ratio of 58,XXX to 58,XXY embryos was close to the expected ratio of 1:2, assuming that unfertilized eggs have an equal chance of becoming fertilized by an X- or a Y-bearing spermatozoon and that the additional (i.e., "donor") male pronucleus also has an equal chance of having either an X or a Y sex chromosome present. However, the development of the 58,XYY class appeared to be restricted, even at the stage of gestation analyzed, in that no embryos with this genetic constitution were observed that had progressed beyond the early somite stage. The present findings are discussed in relation to the cytogenetic findings in human triploid conceptuses, the majority of which are spontaneously aborted during the first half of pregnancy. In man, the 69,XYY class (equivalent to the 58,XYY class in our study) is only rarely encountered, and it has been assumed that these triploid embryos are probably lost at a very early stage of gestation.

摘要

通过标准显微操作技术产生双雄三倍体小鼠胚胎,使用从具有正常染色体组成的雌性小鼠分离的卵子,这些雌性小鼠已与纯合Rb(1.3)1Bnr雄性小鼠交配(该雄性小鼠携带一条大的中着丝粒“标记”染色体,即涉及1号和3号染色体的罗伯逊易位)。将三原核胚胎转移到假孕小鼠的输卵管中,随后在妊娠第10天中午左右对其进行解剖。虽然相对少量的分离出的孕体由形态异常的卵圆柱状结构或空妊娠囊组成,但大多数处于可清晰区分的胚胎阶段,从原条期到出现约20对体节的胚胎。这些胚胎在形态上似乎都是正常的,但比在相似发育阶段分析的正常(二倍体)受精胚胎小得多。总共回收了63个双雄三倍体孕体并进行了细胞遗传学分析。对它们进行G显带以确定其性染色体组成并确认其双雄三倍体状态。与58,XXY类双雄三倍体相比,未观察到58,XXX类双雄三倍体在发育潜能上有明显差异。假设未受精卵有同等机会被携带X或Y的精子受精,并且额外的(即“供体”)雄性原核也有同等机会含有X或Y性染色体,58,XXX与58,XXY胚胎的比例接近预期的1:2。然而,58,XYY类的发育似乎受到限制,即使在所分析的妊娠阶段也是如此,因为未观察到具有这种遗传组成的胚胎发育到早期体节阶段以后。本文的研究结果结合人类三倍体孕体的细胞遗传学发现进行了讨论,人类三倍体孕体中的大多数在妊娠前半期自然流产。在人类中,69,XYY类(相当于我们研究中的58,XYY类)很少见,据推测这些三倍体胚胎可能在妊娠的非常早期就丢失了。

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