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相互易位t(2;5)的人类精子染色体研究

Human sperm chromosome studies in a reciprocal translocation t(2;5).

作者信息

Templado C, Navarro J, Benet J, Genescà A, Pérez M M, Egozcue J

机构信息

Instituto de Biología Fundamental V. Villar Palasí, Bellaterra, Barcelona, Spain.

出版信息

Hum Genet. 1988 May;79(1):24-8. doi: 10.1007/BF00291704.

Abstract

Sperm chromosome complements have been studied in a man heterozygous for a reciprocal translocation t(2;5)(p11;q15). Human sperm chromosomes were obtained after fertilization of zona-free hamster eggs. A total of 75 human sperm metaphases were analysed. On the complements studied, 59 (78.6%) resulted from a 2:2 segregation and 16 (21.3%) from a 3:1 segregation, 4:0 segregation was not observed. Our results indicate that at least 36% of sperm complements were unbalanced with respect to the translocation. The frequency of other chromosome anomalies unrelated to the translocation was 16%.

摘要

对一名携带相互易位t(2;5)(p11;q15)的杂合男性的精子染色体组成进行了研究。通过对无透明带仓鼠卵进行受精后获得人类精子染色体。共分析了75个人类精子中期相。在所研究的染色体组成中,59个(78.6%)来自2:2分离,16个(21.3%)来自3:1分离,未观察到4:0分离。我们的结果表明,至少36%的精子染色体组成在易位方面是不平衡的。与易位无关的其他染色体异常频率为16%。

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