BrDU-Giemsa labeling studies of satellite associations in parents of children with trisomy 21 or 13.
BrDU-Giemsa labeling studies of satellite associations in parents of children with trisomy 21 or 13.
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21 三体或 13 三体儿童父母卫星关联的 BrDU-Giemsa 标记研究。
DOI：
10.1002/ajmg.1320260428
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发表时间：
1987
期刊：
影响因子：
--
通讯作者：
Martin-DeLeon,PA
中科院分区：
文献类型：
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作者：
Gould,SL;Martin-DeLeon,PA
对21三体后代父母的卫星联合(SA)的研究没有提供SA频率的有意义的比较，因为后者不是细胞分裂数的函数。我们使用BrDU标记比较了21三体或13三体儿童的父母和对照组的第一次分裂中期和第二次分裂中期的SA频率。在6个家系中，有3个家系的亲代起源是利用四氢喹啉异型性来确定的。在确定的两例13三体中，错误发生在母亲的减数分裂中。BrDU标记的中期染色体被分析为四组：(A)贡献额外染色体的父母；(B)A中父母的配偶；(C)父母(9)，其中13或21三体的起源未知；以及(D)健康对照组(5)。第一次分裂细胞和第二次分裂细胞的平均每细胞分裂数和染色体/染色体数在四组间均无显著差异。性别、年龄对SA频率无影响。与第一次分裂细胞(未分化染色单体)相比，二次分裂细胞(染色单体差异染色)的SA/细胞数和染色体/SA的平均数显著减少。在二次分裂细胞中，所有类型的双染色体SA在每个受试者中都表现出随机一致和不一致的排列。这种BrDU标记方法的结果没有证据表明SA的定量或定性参数与不分离倾向直接相关。他们还表明，在SAS中，当存在随机染色单体排列时，会发生顶端着丝粒不分离。
Studies on satellite association (SA) in parents of trisomy 21 offspring have not provided meaningful comparisons of SA frequencies since the latter was not expressed as a function of cell division number. We have used BrDU‐labeling to compare SA frequencies in first and second division metaphases from lymphocytes of parents with either a trisomy 21 or trisomy 13 child and a control group. Parental origin of nondisjunction was determined in three of six families using quinacrine heteromorphisms. In the two cases of trisomy 13 determined, the errors occurred in maternal meiosis.BrDU‐labeled metaphases were analyzed for SA frequency in four groups: (A) parents contributing the extra chromosome; (B) spouses of the parents in A; (C) parents (nine) in whom the origin of a trisomy 13 or 21 was unknown; and (D) healthy controls (five). The mean numbers of SAs/cell and of chromosomes/SA were not significantly different among the four groups for both first and second division cells. Sex and age showed no effect on SA frequency. There were significant decreases in mean numbers of SA/cell and chromosomes/SA in second‐division cells (chromatids differentially stained) compared with first‐division cells (chromatids undifferentiated). In second‐division cells, two‐chromosome SAs of all types showed random concordant and discordant alignment in each subject. The results from this BrDU‐labeling approach provide no evidence that either quantitative or qualitative parameters of SA are directly related to a tendency of nondisjunction. They also show that acrocentric nondisjunction occurs in the presence of random chromatid alignment in SAs.