Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin
Interchromosomal effect leading to an increase in aneuploidy in sperm nuclei in a man heterozygous for pericentric inversion (inv 9) and C-heterochromatin
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DOI：
10.1007/s100380170073
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发表时间：
2001-01-01
影响因子：
3.5
通讯作者：
Bartoov, B
中科院分区：
文献类型：
--
作者：
Amiel, A;Sardos-Albertini, F;Bartoov, B
我们描述了一名男子，他患有着丝粒倒位9和结构性异染色质，他的精子细胞二体比率很高(分析了所有的探针)。用8号、9.18号、X号和Y号探针测定精子的二倍体率，均显著高于对照精子，其中9号染色体的二倍体频率最高。在第一次减数分裂中，X和Y一起的探针与X和Y单独的探针显示相同的二体频率，这表明不分离的比率相同。我们认为，在这名男性身上发现的染色体间效应与在携带倒位的男性精子细胞中的其他发现不同，这是因为两条9号染色体之间异染色质的长度存在差异。此外，众所周知，随着异染色质增加，倒位9的影响是高度可变的，甚至在同一个家族的成员中可能会有所不同。
We describe a man with pericentric inversion 9 and constitutive heterochromatin, and a high disomy rate in his sperm cells (with all probes analyzed). The disomy rate was estimated with the following probes: 8, 9. 18, X, and Y, and was significantly higher than that in control sperm cells, while chromosome 9 showed the highest disomy frequency. The probes of X and Y together showed the same disomy frequency as X and Y alone, which indicates the same non disjunction rate in the first meiotic division. We suggest that the interchromosomal effect found in this man differed from other findings in sperm cells of men carrying an inversion in terms of the difference in the length of the heterochromatin between the two chromosomes 9. Also, it is well known that the effect of inversion 9 with increased heterochromatin is highly variable and may even vary in members of the same family.