Ducos A, Revay T, Kovacs A, Hidas A, Pinton A, Bonnet-Garnier A, Molteni L, Slota E, Switonski M, Arruga M V, van Haeringen W A, Nicolae I, Chaves R, Guedes-Pinto H, Andersson M, Iannuzzi L
INRA-ENVT, UMR 444 Génétique Cellulaire, Toulouse, France.
Cytogenet Genome Res. 2008;120(1-2):26-41. doi: 10.1159/000118738. Epub 2008 Apr 30.
Clinical animal cytogenetics development began in the 1960's, almost at the same time as human cytogenetics. However, the development of the two disciplines has been very different during the last four decades. Clinical animal cytogenetics reached its 'Golden Age' at the end of the 1980's. The majority of the laboratories, as well as the main screening programs in farm animal species, presented in this review, were implemented during that period, under the guidance of some historical leaders, the first of whom was Ingemar Gustavsson. Over the past 40 years, hundreds of scientific publications reporting original chromosomal abnormalities generally associated with clinical disorders (mainly fertility impairment) have been published. Since the 1980's, the number of scientists involved in clinical animal cytogenetics has drastically decreased for different reasons and the activities in that field are now concentrated in only a few laboratories (10 to 15, mainly in Europe), some of which have become highly specialized. Currently between 8,000 and 10,000 chromosomal analyses are carried out each year worldwide, mainly in cattle, pigs, and horses. About half of these analyses are performed in one French laboratory. Accurate estimates of the prevalence of chromosomal abnormalities in some populations are now available. For instance, one phenotypically normal pig in 200 controlled in France carries a structural chromosomal rearrangement. The frequency of the widespread 1;29 Robertsonian translocation in cattle has greatly decreased in most countries, but remains rather high in certain breeds (up to 20-25% in large beef cattle populations, even higher in some local breeds). The continuation, and in some instances the development of the chromosomal screening programs in farm animal populations allowed the implementation of new and original scientific projects, aimed at exploring some basic questions in the fields of chromosome and/or cell biology, thanks to easier access to interesting biological materials (germ cells, gametes, embryos ...).
临床动物细胞遗传学的发展始于20世纪60年代,几乎与人类细胞遗传学同时起步。然而,在过去的四十年里,这两个学科的发展却大不相同。临床动物细胞遗传学在20世纪80年代末迎来了它的“黄金时代”。本综述中介绍的大多数实验室以及家畜物种的主要筛查项目都是在那个时期实施的,在一些历史领军人物的指导下,其中第一位是英格玛·古斯塔夫松。在过去的40年里,已经发表了数百篇科学论文,报道了通常与临床疾病(主要是生育障碍)相关的原始染色体异常。自20世纪80年代以来,由于各种原因,从事临床动物细胞遗传学研究的科学家数量急剧减少,该领域的活动现在集中在仅有的几个实验室(10到15个实验室,主要在欧洲),其中一些实验室已经高度专业化。目前,全球每年进行8000到10000次染色体分析,主要针对牛、猪和马。其中约一半分析是在法国的一个实验室进行的。现在已经可以准确估计某些群体中染色体异常疾病的患病率。例如,在法国接受检查的200头表型正常的猪中,有1头携带染色体结构重排异常现象。在大多数国家,牛群中广泛存在的1;29罗伯逊易位的频率已大幅下降,但在某些品种中仍然相当高(在大型肉牛群体中高达20%-25%,在一些本地品种中甚至更高)。家畜群体中染色体筛查项目的持续开展,以及在某些情况下的进一步发展,使得新的原创性科学项目得以实施,这些项目旨在探索染色体和/或细胞生物学领域的一些基本问题,这得益于更容易获取有趣的生物材料(生殖细胞、配子、胚胎等)。