Human Inherited Marker Chromosome 22 Short-arm Enlargement: Investigation of RDNA Gene Multiplicity, Ag-band Size, and Acrocentric Association

Overview

Journal Hum Genet

Specialty Genetics

Date 1981 Jan 1

PMID 6945287

Citations 9

Authors

R Bernstein

B Dawson

J Griffiths

Affiliations

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Abstract

The banding characteristics of an extreme variant familial chromosome 22 short-arm enlargement are described. Ag-AS staining for nucleolar-organizer regions, identified two areas of rDNA actively coding for 18S and 28S rRNA, the one being a broad distal Ag-band and the other a narrower centromeric Ag-band. The DNA in the major portion of the enlarged short arm was highly methylated, as shown by the binding of antibodies to 5-methylcytidine after UV-denaturation of chromosomal DNA. Mean Ag-band size on the aberrant 22p+ correlated with the mean number of 22p+ associations. Association of 22p+ was no greater than that of other acrocentrics, in spite of a presumed excess number of rDNA gene copies. This case represents only the second such normal variant defined by these techniques.

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