Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10)
Sperm FISH studies in seven male carriers of Robertsonian translocation t(13;14)(q10;q10)
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DOI：
10.1093/humrep/deh232
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发表时间：
2004-06-01
影响因子：
6.1
通讯作者：
Vidal, F
中科院分区：
文献类型：
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作者：
Anton, E;Blanco, J;Vidal, F
背景：罗伯逊易位t(13；14)是人类最常见的结构重组之一，但对这些携带者减数分裂分离的研究仍然有限。所涉及的染色体的分离模式、易位染色体对其他染色体对突触和分离的可能影响[染色体间效应(ICE)]以及产生不平衡精子的比率仍然值得关注，这不仅是为了更好地描述这种重组的减数分裂行为，也是为了为携带者夫妇提供准确的遗传咨询。方法：采用多色荧光原位杂交技术，对7例t(13；14)(q10；q10)男性携带者进行13、14号染色体的分离和18、21、22、X、Y染色体上ICE的可能发生。结果和结论：被分析的个体表现出均匀的分离模式，其中交替分离明显占优势，导致产生正常/平衡的精子(83-88.23%)。在被分析的两个携带者中，可以被认为是阳性ICE的性染色体的二倍体比率显著增加。
BACKGROUND: Robertsonian translocation t(13;14) is one of the most common structural reorganization in humans, but meiotic segregation studies in these carriers are still limited. The segregation pattern of the chromosomes involved, the possible influence of the translocated chromosomes on the synapsis and disjunction of other chromosome pairs [interchromosomal effects (ICE)] and the rates of unbalanced spermatozoa produced still deserve attention, not only to obtain a better characterization of the meiotic behaviour of this reorganization, but also to offer carrier couples accurate genetic counselling. METHODS: Multicolour fluorescence in-situ hybridization was used to analyse the segregation of chromosomes 13 and 14 and the possible occurrence of ICE (on chromosomes 18, 21, 22, X and Y) in seven male carriers of a t(13;14)(q10;q10). RESULTS AND CONCLUSIONS: The individuals analysed showed a homogeneous segregation pattern, with a clear predominance of alternate segregations resulting in the production of normal/balanced spermatozoa (83-88.23%). A significant increase in the disomy rates for the sex chromosomes, which could be considered as a positive ICE, was observed in two of the carriers analysed.