Variability and familial transmission of constitutive heterochromatin of human chromosomes evaluated by the method of linear measurement

Summary Using the method of linear measurement, the lengths of constitutive heterochromatin of chromosomes 1, 9, 16, and Y were determined in 125 unrelated individuals, and in 30 members of ten families. The method used eliminates the variations in the C-band length due to different degrees of contraction of chromosomes in different mitoses, and enables the size of heterochromatin blocks to be expressed. It was found that the distribution of C-band lengths in the group of 125 individuals was normal, i.e., Gaussian, for all four classes of chromosomes measured. On the basis of length distribution and by computing the P₁, P₁₀, P₉₀ and P₉₉ percentiles, the actual numerical limits could be proposed for the five-step evaluation of heterochromatin length according to the Paris Conference (1971), Supplement (1975), for chromosomes 1, 9, 16, and in a preliminary way also for Y. When applying the proposed limits to data obtained in the present study, 165 C-band variants could be identified among the 125 individuals.In ten families, C-block lengths of the chromosomes transmitted from parents to progeny could be determined in 63 cases. The mean difference in C-band length of transmitted chromosomes, as measured in parents and in children, was 0.46×10^-7 m. An analysis was carried out to detect the factors upon which the magnitude of this difference depends, and to define what differences are attributable to methodological errors. The results revealed that the difference rises slightly with the increasing length of the measured C block. Three degrees, defined by concrete ranges of difference in C-block length, were proposed for expressing the probability that the compared chromosomes had been transmitted.The study further attests to the effectiveness of the method of constitutive heterochromatin measurement for paternity testing. In our set of ten families, the comparison of C-band lengths of chromosomes 1, 9, 16, and Y led to rejection of paternity in 64% of unrelated individuals; excluding the Y chromosome, the percentage decreased to 61. As many as 47% of the individuals were rejected by a difference higher than two units (i.e., transmission of the compared chromosome highly improbable).