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本实验应用分子及细胞遗传学技术对6例Dp~+、Gp~+病例,10例D/G易位病例,1例额外小染色体病例及1例Yqs病例进行研究,结果发现Dp~+、Gp~+组银染频率显著高于正常人,但随体联合(SA)频率却显著低于正常人,原位杂交未发现p~+区域银颗粒显著增加现象。与笔者曾报道过的2例p~+病例结果不同,提示p~+的发生机理不完全相同,可能在染色体的rRNA基因簇区存在着核仁组织者区(NOR)转录位点的多样化。D/G易位组病例的银染(Ag-NOR)及原位杂交结果显示,易位的染色体皆丢失了NOR。对额外小染色体(mar)病例及Y长臂随体(Yqs)病例的研究表明,mar及Yqs并未引起表型效应。
In this study, 6 cases of Dp ~ +, Gp ~ +, 10 cases of D / G translocation, 1 case of extrachromosome and 1 case of Yqs were studied by molecular and cytogenetic techniques. The results showed that Dp ~ +, The frequency of silver staining in Gp ~ + group was significantly higher than that in normal subjects, but the frequency of satellite association (SA) was significantly lower than that in normal subjects. In situ hybridization, no significant increase of silver particles was found in p ~ + region. Different from the results of two cases of p ~ + reported by the author, it is suggested that the mechanism of p ~ + is not exactly the same. There may be a diversity of transcription sites of nucleolar organizer region (NOR) in the rRNA gene cluster of chromosome . The results of Ag-NOR and in situ hybridization in D / G translocation group showed that the translocated chromosomes lost NOR. Studies of extra small chromosome (mar) cases and Y long arm satellite (Yqs) cases showed that mar and yqs did not cause phenotypic effects.