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对一名携带13;14罗伯逊易位杂合子男性的精子进行细胞遗传学分析。

Cytogenetic analysis of sperm from a male heterozygous for a 13;14 Robertsonian translocation.

作者信息

Martin R H

机构信息

Department of Pediatrics, Faculty of Medicine, University of Calgary, Alberta, Canada.

出版信息

Hum Genet. 1988 Dec;80(4):357-61. doi: 10.1007/BF00273651.

Abstract

Cytogenetic analysis of 121 sperm from a man heterozygous for a t(13;14) Robertsonian translocation was performed using the technique of in vitro penetration of hamster eggs. The frequency of sperm that were chromosomally unbalanced with respect to the translocation was 27%. The frequency of chromosomally normal (36%) and balanced (38%) complements was approximately equal, as theoretically expected. There was no evidence for an interchromosomal effect since the frequency of numerical chromosomal abnormalities (2.5%) and structural chromosomal abnormalities (10.7%)--both unrelated to the translocation--were within the normal range of control donors. The ratio of X- and Y-chromosome bearing sperm was equal, and there was no evidence for preferential segregation of the X chromosome with the translocation.

摘要

运用仓鼠卵体外穿透技术,对一名携带t(13;14)罗伯逊易位杂合子的男性的121条精子进行了细胞遗传学分析。与该易位相关的染色体不平衡精子的频率为27%。染色体正常(36%)和平衡(38%)互补的频率大致相等,正如理论预期。没有证据表明存在染色体间效应,因为与该易位无关的染色体数目异常(2.5%)和结构染色体异常(10.7%)的频率均在对照供体的正常范围内。携带X和Y染色体的精子比例相等,且没有证据表明X染色体与易位存在优先分离现象。

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