DISTRIBUTION OF ANEUPLOIDY IN HUMAN GAMETES - COMPARISON BETWEEN HUMAN SPERM AND OOCYTES
DISTRIBUTION OF ANEUPLOIDY IN HUMAN GAMETES - COMPARISON BETWEEN HUMAN SPERM AND OOCYTES
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DOI：
10.1002/ajmg.1320390315
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发表时间：
1991-06-01
期刊：
影响因子：
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通讯作者：
RADEMAKER, A
中科院分区：
文献类型：
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作者：
MARTIN, RH;KO, E;RADEMAKER, A
对 11,615 个核型人类精子和 772 个核型人类卵母细胞中非整倍性的频率和分布进行了比较，以确定是否所有染色体都同样可能参与非整倍体事件，或者是否某些染色体特别容易发生不分离。比较了人类精子和卵母细胞不同染色体组和个体染色体之间的低单倍体和高单倍体频率。 一般来说，在精子和卵母细胞中，亚单倍体染色体补体比超单倍体染色体补体更常见。 亚单倍体补体中染色体丢失的分布表明，丢失的大染色体显着减少，而小染色体丢失明显较多，这表明技术丢失主要影响小染色体。 保守估计，人类精子中的非整倍体（2 X 超单倍体）约为 3-4%，人类卵母细胞中的非整倍体约为 18-19%。 所有染色体组均以超单倍体人类精子和卵母细胞为代表。 对于人类精子，观察到的超单倍体频率等于预期频率，这是基于以下假设：所有染色体组的不分离频率均相等，但有两个例外：G 组和性染色体。 在人类精子的单个染色体中，1号和21号染色体以及性染色体具有显着过量的超单倍体。 对于人类卵母细胞，C 组和 F 组超单倍体卵母细胞的数量比预期要少，而 D 组和 G 组染色体的超单倍体卵母细胞数量比预期要多。在单个染色体中，21 号染色体显着过剩。这些结果表明，所有染色体都容易发生不分离，但在人类精子和卵母细胞中，21 号染色体特别容易出现非整倍体。 他们还证明，性染色体非整倍体在人类精子中很常见，但在人类卵母细胞中却不常见。
The frequency and distribution of aneuploidy was compared in 11,615 karyotyped human sperm and 772 karyotyped human oocytes to determine if all chromosomes are equally likely to be involved in aneuploid events or if some chromosomes are particularly susceptible to nondisjunction. The frequency of hypohaploidy and hyperhaploidy was compared among different chromosome groups and individual chromosomes for human sperm and oocytes. In general, hypohaploid chromosome complements were more frequent than hyperhaploid complements, in sperm and oocytes. The distribution of chromosome loss in the hypohaploid complements indicated that significantly fewer of the large chromosomes and significantly more of the small chromosomes were lost, suggesting that technical loss predominantly affects small chromosomes. A conservative estimate of aneuploidy (2 X hyperhaploidy) was approximately 3-4% in the human sperm and 18-19% in human oocytes. All chromosome groups were represented among hyperhaploid human sperm and oocytes. For human sperm, the observed frequency of hyperhaploidy equaled the expected frequency based on the assumption that the frequency of nondisjunction is equal for all chromosome groups, with two exceptions: group G and the sex chromosomes. Among individual chromosomes in human sperm, chromosomes 1 and 21 and the sex chromosomes had a significant excess of hyperhaploidy. For human oocytes, there were fewer hyperhaploid oocytes than expected for chromosome groups C and F and more than expected for chromosome groups D and G. Among individual chromosomes there was a significant excess for chromosome 21. These results indicate that all chromosomes are susceptible to nondisjunction but that chromosome 21 is particularly prone to aneuploidy in both human sperm and oocytes. They also demonstrate that sex chromosome aneuploidy is common in human sperm but not in human oocytes.