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首页> 外文期刊>Journal of assisted reproduction and genetics >Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations.
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Analysis of meiotic segregation patterns and interchromosomal effects in sperm from six males with Robertsonian translocations.

机译:分析六名罗伯逊易位男性的精子的减数分裂分离模式和染色体间效应。

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摘要

PURPOSE: To provide more genetic information about meiotic segregation behavior and the possibility of interchromosomal effects (ICE) in spermatozoa from carriers of Robertsonian (Rob) translocations. MATERIALS AND METHODS: Meiotic segregation behavior in spermatozoa from six carriers of Rob translocations, four t(13;14), one t(14;22) and one t(13;21), was investigated by dual fluorescence in-situ hybridization (FISH). Aneuploidy for chromosomes 18, X and Y was studied by triple FISH. RESULTS: The rate of normal/balanced spermatozoa resulting from alternate segregation ranged from 78.14 to 86.88%. The frequency of unbalanced spermatozoa resulting from adjacent segregation varied between 11.70 and 19.53%. The higher frequencies of aneuploidy for sex chromosome were observed in three Rob translocation carriers. In addition, the increased rates of diploid were found in two t(13;14) carriers. CONCLUSIONS: Alternate segregation is dominant in the different types of Rob translocations. Some carriers may be at an increased risk for ICE.
机译:目的:提供更多有关减数分裂分离行为的遗传信息,以及从罗伯逊(Rob)易位携带者的精子中染色体间效应(ICE)的可能性。材料与方法:通过双重荧光原位杂交技术研究了6个Rob易位携带者,4 t(13; 14),1 t(14; 22)和1 t(13; 21)携带者在精子中的减数分裂分离行为(鱼)。通过三重FISH研究了染色体18,X和Y的非整倍性。结果:交替分离导致的正常/平衡精子发生率在78.14%至86.88%之间。相邻分离导致的精子失衡的频率在11.70%和19.53%之间变化。在三个Rob易位携带者中观察到性染色体的非整倍性频率更高。另外,在两个t(13; 14)携带者中发现二倍体的比率增加。结论:在不同类型的Rob易位中,交替隔离是主要的。一些承运人可能会增加ICE的风险。

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