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人类染色体非整倍体的聚类分析及不分离的追踪研究

Clustering of chromosomal aneuploidy and tracing of nondisjunction in man.

作者信息

Hansmann I

出版信息

Environ Health Perspect. 1979 Aug;31:23-5. doi: 10.1289/ehp.793123.

Abstract

Chromosomal aneuploidy is the most frequent genetic damage observed in newborn children and originates as a rule from nondisjunction during maternal or paternal germ cell development. The error of chromosome segregation could be allocated in the past--at least in cases of 47,XXY--to maternal meiosis I (50%) or meiosis II (10%) and to paternal meiosis I (40%). Recent cytological improvements with various banding techniques enabled a further study on the origin of nondisjunction. Summarizing the published data one can argue that errors in Downs' syndrome are most often due to cleavage errors during maternal meiosis I. Approximately 70% of errors occur in oogenesis and only 30% in spermatogenesis. Maternal meiosis I seems also to be involved in most cases of fetal trisomy 16. Such a preferential missegregation of chromosomes offers the possibility of studying more closely the very mechanisms of nondisjunction in mammalian meiosis and early cleavages.

摘要

染色体非整倍性是新生儿中最常见的遗传损伤,通常源于母方或父方生殖细胞发育过程中的不分离。过去,染色体分离错误——至少在47,XXY的情况下——可归因于母方减数分裂I(50%)或减数分裂II(10%)以及父方减数分裂I(40%)。最近,各种显带技术带来的细胞学进展使得对不分离起源的进一步研究成为可能。总结已发表的数据可以认为,唐氏综合征中的错误最常归因于母方减数分裂I期间的分裂错误。大约70%的错误发生在卵子发生过程中,只有30%发生在精子发生过程中。在大多数胎儿16三体的病例中,母方减数分裂I似乎也有涉及。这种染色体的优先错误分离为更深入地研究哺乳动物减数分裂和早期分裂中不分离的机制提供了可能性。

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Detection of nondisjunction in mammals.哺乳动物中不分离现象的检测。
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本文引用的文献

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A sex-linked blood group.一种性连锁血型。
Lancet. 1962 Jan 6;1(7219):8-10. doi: 10.1016/s0140-6736(62)92637-5.
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Nondisjunction in aging female mice.衰老雌性小鼠中的染色体不分离现象。
Cytogenet Cell Genet. 1976;17(3):150-60. doi: 10.1159/000130707.

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