A cytological basis for a map of the nucleolar chromosome in man.
A cytological basis for a map of the nucleolar chromosome in man.
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人类核仁染色体图谱的细胞学基础。
DOI：
10.1093/oxfordjournals.jhered.a105979
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发表时间：
1949
期刊：
影响因子：
--
通讯作者：
Patricia St. Lawrence
中科院分区：
文献类型：
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作者：
Jack Schultz;Patricia St. Lawrence
我们在本文中的努力是将细胞遗传学方法的应用扩展到人类遗传问题。细胞遗传学技术的本质是遗传学和细胞学信息的相关使用，其目的是可以比限制使用任何一门学科更迅速和更完整地确定个体的遗传构成。虽然人类遗传学仍处于起步阶段，但已经研究了足够多的性状，以提供性染色体的连锁图，并使进一步深入分析有利可图。[8]迄今为止，在人类染色体区域和它们的遗传效应之间建立对应似乎是不可能的。细胞学上最严重的困难似乎在于获得足够的染色体结构细节，以便对不同体质的个体之间的差异进行有用的研究。不同染色体的中期形态差异确实已经确定;人类细胞学的一个重大胜利是Painter对性染色体的分析。然而，鉴于细胞遗传学图谱所需的细节，中期染色体的结构只有有限的用途。我们现在已经发现，在减数分裂的粗线期，有可能计算出补体中一条染色体（核仁染色体）的染色粒模式。这些观察结果已经延伸到生产的标准图，这条染色体可以作为一个基础，从正常模式的偏差识别。目前这只是一个初步的近似值。应该有可能改进这一初步图谱并将其扩展到互补序列的其他染色体。1946年，在圣路易斯举行的美国遗传学会会议上展示了这种材料。10
OUR effort in the present paper is to extend the application of cytogenetic methods to problems of human heredity. The essence of the cytogenetic technique is the correlated use of genetic and cytological information, to the end that the genetic constitution of an individual may be determined more expeditiously and completely than by the restricted use of either discipline. Although human genetics is still in its beginnings, a sufficiently large number of characters has been studied to provide a linkage map for the sex chromosomes and to make further intensive analysis profitable. 8 It has not hitherto seemed likely that the establishment of correspondence between chromosome regions and their genetic effects in man would be feasible. Cytologically the most serious difficulty appeared to lie in obtaining sufficient structural detail in the chromosomes to make a useful search for differences between individuals of different constitutions. Differences in the metaphase morphology of the various chromosomes have indeed been established; a major triumph of human cytology being Painter's analysis of the sex chromosomes. 14-'In view of the detail required for a cytogenetic map, however, the structure of the metaphase chromosomes has only limited uses. We have now found it possible to work out the pattern of the chromomeres of one chromosome of the complement, the nucleolar chromosome, at the pachytene stage of meiosis. These observations have extended to the production of a standard diagram for this chromosome which can serve as a basis for recognition of deviations from the normal pattern. This is at present only a first approximation. It should be possible to improve this preliminary map and to extend it to the other chromsomes of the complement. A demonstration of this material was presented at the meeting of the Genetics Society of America, at St. Louis in 1946. 10