在唐氏综合征高发人群中，21三体患儿父亲精子中的21号染色体二体：父源病例的发病率增加。
Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin.
作者信息
Blanco J, Gabau E, Gómez D, Baena N, Guitart M, Egozcue J, Vidal F
机构信息
Unitat de Biologie Cellular, Universitat Autonoma de Barcelona. Barcelona.
出版信息
Am J Hum Genet. 1998 Oct;63(4):1067-72. doi: 10.1086/302058.
Abstract
Between April 1991 and December 1994, epidemiological studies detected a population with a high prevalence of Down syndrome in El Vallès, Spain. Parallel double studies were carried out to determine the parental and the meiotic origins of the trisomy 21, by use of DNA polymorphisms, and to establish the incidence of disomy 21 in the spermatozoa of the fathers of affected children, by use of multicolor FISH. Results show that the overall incidence of chromosome 21 disomy in the fathers of affected children was not significantly different from that in the control population (0.31% vs. 0.37%). However, analysis of individual data demonstrates that two cases (DP-4 and DP-5) with significant increases of disomy 21 (0. 75% and 0.78% vs. 0.37%) correspond to the fathers of the two individuals with Down syndrome of paternal origin. DP-5 also had a significant increase of sex-chromosome disomies (0.69% vs. 0.37%) and of diploid spermatozoa (1.13% vs. 0.24%).
摘要
1991年4月至1994年12月期间，流行病学研究在西班牙的埃尔瓦列斯发现了一个唐氏综合征高发人群。同时开展了两项平行研究，一项通过使用DNA多态性来确定21三体的亲本及减数分裂起源，另一项通过使用多色荧光原位杂交技术来确定患病儿童父亲精子中21二体的发生率。结果显示，患病儿童父亲中21号染色体二体的总体发生率与对照组人群相比无显著差异（分别为0.31%和0.37%）。然而，对个体数据的分析表明，两例21二体显著增加的病例（DP - 4和DP - 5，分别为0.75%和0.78%，而对照组为0.37%）对应的是两名父源唐氏综合征患儿的父亲。DP - 5的性染色体二体（0.69%，对照组为0.37%）和二倍体精子（1.13%，对照组为0.24%）也显著增加。
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