The heteromorphic marker on chromosome 18 using restriction endonuclease AluI.

The staining property of pericentromeric heterochromatin of chromosome 18 is compared by C-banding and restriction endonuclease AluI digestion methods. Only a small distal fraction of C-band of chromosome 18 is observed to be resistant to AluI treatment, which positively stained with subsequent Giemsa staining. The resistant fraction is characteristic and usually located toward the short arm. The extensive heterogeneity of constitutive heterochromatin revealed by AluI treatment is useful in demonstrating the heterozygosity of homologous chromosomes. This, in turn, may provide frequent markers to identify the chromosomes 18's. This present approach can be utilized in evaluation of the families to describe the origin of the extra chromosome 18 in Edward syndrome. As an example, one such family has been investigated where the additional chromosome 18 originated due to paternal nondisjunction at meiosis I.