Kuleshov N P, Ivanova Iu E, Platonova V I, Alekhin V I
Genetika. 1975;11(12):110-5.
The cytogenetic examination of the population of the villages of Karakent and Ishan consisted of two directions: the study on the frequency of chromosome aberrations in the culture of lymphocytes and the diagnostics of anomalies and variants of karyotype. The frequency of chromosome aberrations of 40 individuals was studied. It is shown that the frequency of cells with chromosome aberrations of the individuals in different villages does not differ and on the average is 1,4%. The distribution of lymphocyte culture according to the number of aberrations corresponds to that of theoretical Puassonian. Chromatide breaks are the main type of the aberrations. Among 250 karyotypically examined individuals no evident structure reformations were found. In the caryotype of a 7-year old girl trisomia of the 21st autosome was detected. On the basis of differential staining of chromosomes by Hiemse's dye 18 individuals (7,2%) were diagnosed to have insignificant changes in morphology of some chromosomes, considered as variants of caryotype. In the majority of cases these changes were of a family nature. On the medical examination mnay individuals were diagnosed to have different pathological features, though we did not succeed in revealing any correlation between a certain microanomaly of chromosomes and a pathological feature.
淋巴细胞培养中染色体畸变频率的研究以及核型异常和变异的诊断。研究了40个人的染色体畸变频率。结果表明，不同村庄个体的染色体畸变细胞频率没有差异，平均为1.4%。根据畸变数量的淋巴细胞培养分布与理论泊松分布相符。染色单体断裂是畸变的主要类型。在250例接受核型检查的个体中，未发现明显的结构改变。在一名7岁女孩的核型中检测到21号常染色体三体。基于吉姆萨染料对染色体的差异染色，18人（7.2%）被诊断为某些染色体形态有轻微变化，被视为核型变异。在大多数情况下，这些变化具有家族性。在医学检查中，许多个体被诊断出有不同的病理特征，尽管我们未能发现染色体的特定微异常与病理特征之间的任何相关性。
