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检测哺乳动物生殖系中发生的染色体错分离的实验方法。

Experimental approaches for the detection of chromosomal malsegregation occurring in the germline of mammals.

作者信息

Russell L B

出版信息

Basic Life Sci. 1985;36:377-96. doi: 10.1007/978-1-4613-2127-9_26.

DOI:10.1007/978-1-4613-2127-9_26
PMID:4096698
Abstract

Existing and newly proposed methods to detect the induction of heritable aneuploidy are summarized, and their favorable and unfavorable features discussed. Among the tests involving direct chromosomal examination, those involving study of pronuclear chromosomes at first cleavage are judged to be the most universally informative and reliable, provided tertiary trisomy can be ruled out. Measurement of postmidterm (fetal) death is proposed as a trisomy prescreen that can be readily combined with a dominant-lethal test. Among the genetic procedures for identifying the results of malsegregation events, direct detection of aneuploids has a number of advantages over complementation methods, in which only a fraction of the products of aneuploid gametes is detectable. Direct detection of aneuploids must, however, be restricted to sex chromosomes if postnatal animals are examined. A genetic marker system to detect autosomal trisomies in fetuses is proposed. An examination of experimental parameters that might maximize induction of malsegregation leads to the recommendation to include preleptotene among exposed germ-cell stages.

摘要

总结了现有的以及新提出的检测遗传性非整倍体诱导的方法,并讨论了它们的优缺点。在涉及直接染色体检查的测试中,那些在第一次卵裂时研究原核染色体的测试被认为是最具普遍信息性和可靠性的,前提是可以排除三级三体。提议将中期后(胎儿)死亡的测量作为三体预筛查,它可以很容易地与显性致死试验相结合。在识别错分离事件结果的遗传程序中,直接检测非整倍体比互补方法有许多优势,在互补方法中,只有一部分非整倍体配子的产物是可检测的。然而,如果检查出生后的动物,直接检测非整倍体必须仅限于性染色体。提出了一种检测胎儿常染色体三体的遗传标记系统。对可能使错分离诱导最大化的实验参数进行检查后,建议在暴露的生殖细胞阶段中包括细线前期。

相似文献

1
Experimental approaches for the detection of chromosomal malsegregation occurring in the germline of mammals.检测哺乳动物生殖系中发生的染色体错分离的实验方法。
Basic Life Sci. 1985;36:377-96. doi: 10.1007/978-1-4613-2127-9_26.
2
[Chromosomal control of early mammalian development].
Ontogenez. 1983 Nov-Dec;14(6):573-89.
3
Effects of zero to four copies of chromosome 15 on mouse embryonic development.
Cytogenet Cell Genet. 1988;47(1-2):66-71. doi: 10.1159/000132508.
4
Chromosomal differences in susceptibility to meiotic aneuploidy.减数分裂非整倍体易感性中的染色体差异。
Environ Mol Mutagen. 1996;28(3):237-47. doi: 10.1002/(SICI)1098-2280(1996)28:3<237::AID-EM7>3.0.CO;2-A.
5
[Clinical features of abnormal chromosome karyotypes in twin pregnancies complicated with structural abnormalities].双胎妊娠合并结构异常染色体核型异常的临床特征
Zhonghua Fu Chan Ke Za Zhi. 2011 Sep;46(9):649-54.
6
Cytogenetics of pregnancy wastage.
Adv Hum Genet. 1985;14:1-57. doi: 10.1007/978-1-4615-9400-0_1.
7
Sex chromosome loss and non-disjunction in women: analysis of chromosomal segregation in binucleated lymphocytes.女性性染色体丢失与不分离:双核淋巴细胞中染色体分离的分析
Chromosoma. 1996 Mar;104(6):461-7. doi: 10.1007/BF00352270.
8
Non-mosaic trisomy 16 in a third-trimester fetus.孕晚期胎儿的非嵌合型16三体。
Obstet Gynecol. 1996 May;87(5 Pt 2):856-60.
9
Sonographic scoring index for prenatal detection of chromosomal abnormalities.用于产前检测染色体异常的超声评分指数。
J Ultrasound Med. 1992 Sep;11(9):449-58. doi: 10.7863/jum.1992.11.9.449.
10
Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies.一种DNA方法——荧光定量聚合酶链反应(QF-PCR)在胎儿非整倍体产前诊断中的应用。
J Obstet Gynaecol Can. 2011 Sep;33(9):955-960. doi: 10.1016/S1701-2163(16)35022-8.

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