Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping

B. Trask, G. Van den Engh, B. Mayall, Joe Gray

Research output: Contribution to journalArticle

57 Citations (Scopus)

Abstract

Maternal and paternal homologues of many chromosome types can be differentiated on the basis of their peak position in Hoechst 33258 versus chromomycin A3 bivariate flow karyotypes. We demonstrate here the magnitude of DNA content differences among normal chromosomes of the same type. Significant peak-position differences between homologues were observed for an average of four chromosome types in each of the karyotypes of 98 different individuals. The frequency of individuals with differences in homologue peak positions varied among chromosome types: e.g., chromosome 15, 61%; chromosome 3, 4%. Flow karyotypes of 33 unrelated individuals were compared to determine the range of peak position among normal chromosomes. Chromosomes Y, 21, 22, 15, 16, 13, 14, and 19 were most heteromorphic, and chromosomes 2-8 and X were least heteromorphic. The largest chromosome 21 was 45% larger than the smallest 21 chromosome observed. The base composition of the variable regions differed among chromosome types. DNA contents of chromosome variants determined from flow karyotypes were closely correlated to measurements of DNA content made of gallocyanin chrome alum-stained metaphase chromosomes on slides. Fluorescence in situ hybridization with chromosome-specific repetitive sequences indicated that variability in their copy number is partly responsible for peak-position variability in some chromosomes. Heteromorphic chromosomes are identified for which parental flow karyotype information will be essential if de novo rearrangements resulting in small DNA content changes are to be detected with flow karyotyping.

Original languageEnglish (US)
Pages (from-to)739-752
Number of pages14
JournalAmerican Journal of Human Genetics
Volume45
Issue number5
StatePublished - 1989
Externally publishedYes

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Karyotyping
Chromosomes
Karyotype
Chromosomes, Human, Pair 21
DNA
Chromomycin A3
Bisbenzimidazole
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 8
Chromosomes, Human, Pair 4
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 2
Nucleic Acid Repetitive Sequences
Base Composition
Metaphase
Fluorescence In Situ Hybridization
Individuality
Mothers

ASJC Scopus subject areas

  • Genetics

Cite this

Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping. / Trask, B.; Van den Engh, G.; Mayall, B.; Gray, Joe.

In: American Journal of Human Genetics, Vol. 45, No. 5, 1989, p. 739-752.

Research output: Contribution to journalArticle

Trask, B. ; Van den Engh, G. ; Mayall, B. ; Gray, Joe. / Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping. In: American Journal of Human Genetics. 1989 ; Vol. 45, No. 5. pp. 739-752.
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