Goldman A S, Hultén M A
Regional Genetic Services, East Birmingham Hospital, Yardley Green Unit.
J Med Genet. 1992 Feb;29(2):98-102. doi: 10.1136/jmg.29.2.98.
Chromosome in situ suppression hybridisation with biotinylated whole chromosome libraries permits the unequivocable identification of specific human somatic chromosomes in numerous situations. We have now used this so called 'chromosome painting' technique in meiotically dividing cells, isolated from human testicular biopsy. It is shown that the method allows identification of target homologues, bivalents, and sister chromatids throughout the relevant stages of meiosis. Thus, a more accurate study of meiosis per se is now available to increase our understanding of such processes as first meiotic synapsis of homologues and chiasma formation/meiotic crossing over, which are still outstanding biological enigmas. The new technology also makes it possible, for the first time, (1) to obtain direct numerical data in first meiotic non-disjunction for individual chromosomes, and (2) to quantify segregation in male carriers of structural rearrangements. We exemplify the use of the chromosome painting technique for a first meiotic segregation analysis of an insertional translocation carrier.
用生物素化的全染色体文库进行染色体原位抑制杂交,在许多情况下能够明确鉴定特定的人类体细胞染色体。我们现在已将这种所谓的“染色体描绘”技术应用于从人类睾丸活检中分离出的减数分裂细胞。结果表明,该方法能够在减数分裂的相关阶段识别目标同源染色体、二价体和姐妹染色单体。因此,现在可以对减数分裂本身进行更准确的研究,以增进我们对诸如同源染色体的第一次减数分裂联会以及交叉形成/减数分裂交换等过程的理解,而这些过程仍是尚未解决的生物学谜团。这项新技术还首次使得:(1)获取关于单个染色体第一次减数分裂不分离的直接数值数据,以及(2)对结构重排男性携带者的分离情况进行定量分析成为可能。我们举例说明了染色体描绘技术在插入易位携带者第一次减数分裂分离分析中的应用。