Abstract
Adjacent fractions of human genomic heterochromatin may contain distinct DNA sequence families that can be characterized by a number of molecular and conventional procedures. GTG banded metaphase chromosomes from amniocytes revealed a chromosome 1 with a large heterochromatic region that was lightly stained by Giemsa, it's homologue had a small 1qh region that stained dark. The 1qh region of both homologues stained dark by the TaqI/Giemsa technique. The AluI/Giemsa procedure, which completely digested the 1qh of the normal homologue, did not fully digest the variant's 1qh. A whole chromosome 1 painting probe did not produce any signals in the 1qh of both homologues. The chromosome 1 alphoid centromeric probe showed signals that covered the entire 1qh of the variant homologue and displayed signals that were localized to the centromeric region in the normal variant. It has been shown that chromosome 9 beta satellite DNA sequences have related sequences that are harbored within the pericentromeric region of chromosome 1. A chromosome 9 specific beta satellite probe demonstrated positive signals within the entire 1qh of the variant and presented signals localized to the centromeric region in the normal homologue. These data suggests that the variant 1qh region apparently contains amplified chromosome 1 alpha and sequences related to chromosome 9 beta satellite DNA.
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Conte, R., Verma, R. Variant chromosome 1 reveals centromeric DNA sequences within the lqh region. Genet Med 2, 103 (2000). https://doi.org/10.1097/00125817-200001000-00190
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DOI: https://doi.org/10.1097/00125817-200001000-00190