Kovaleva N V, Butomo I V, Novikova I Iu
Tsitologiia. 1993;35(10):33-43.
Acrocentric chromosome associations were studied in 373 persons: children with Down's syndrome, their parents and in controls. In parents with nondisjunction in the first meiotic division (M1) and in children with trisomy 21 due to parental nondisjunction in the M1 the increase of association activity of chromosome 21 was found out, compared with the parents-donors of the extrachromosome due to meiotic 2 (M2) errors, their children and control. The increased frequency of chromosome 21 associations in the whole group of parents (without taking into consideration the origin of odd chromosome) is also observed. It is particularly stressed that under studying the extrachromosome origin by cytological method the accumulation of marker variants of chromosome 21 occurs in groups of donors of the extrachromosome and their partners. This causes the absence of differences in association frequency between donors and donors' partners and prevents to study the integral picture of various factors contribution in the etiology of nondisjunction.
对373人进行了近端着丝粒染色体关联研究,包括唐氏综合征患儿、他们的父母以及对照组。在第一次减数分裂(M1)出现不分离的父母以及由于M1期父母不分离导致21三体的患儿中,与因减数分裂2(M2)错误产生额外染色体的父母及其子女和对照组相比,发现21号染色体的关联活性增加。在整个父母组中(不考虑奇数染色体的来源)也观察到21号染色体关联频率增加。特别强调的是,在用细胞学方法研究额外染色体来源时,21号染色体标记变体在额外染色体供体及其配偶组中出现积累。这导致供体与其配偶在关联频率上没有差异,并妨碍了研究各种因素在不分离病因学中的综合作用情况。