Chromosome deletion mapping of interspersed low-copy repetitive DNA

A cloned 2.2 Eco RI segment of interspersed repetitive DNA was hybridized to genomic DNA from a mentally retarded patient with an interstitial deletion in the long arm of one chromosome 12 (12q-). Under hybridization conditions of high stringency, one prominent 2.2-kilobase (kb) Eco RI fragment demo...

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Bibliographic Details
Published in:American journal of human genetics 1984-07, Vol.36 (4), p.769-776
Main Authors: Funderburk, S J, Sparkes, R S, Klisak, I, Law, M L
Format: Article
Language:English
Subjects:
Animals
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, 6-12 and X
Cricetinae
Cricetulus
Deoxyribonuclease EcoRI
DNA - genetics
DNA Restriction Enzymes
Humans
Hybrid Cells
Karyotyping
Nucleic Acid Hybridization
Repetitive Sequences, Nucleic Acid
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Summary:A cloned 2.2 Eco RI segment of interspersed repetitive DNA was hybridized to genomic DNA from a mentally retarded patient with an interstitial deletion in the long arm of one chromosome 12 (12q-). Under hybridization conditions of high stringency, one prominent 2.2-kilobase (kb) Eco RI fragment demonstrated reduced autoradiographic intensity in the 12q- sample compared with several normal controls. These findings indicate that the genomic location for one of the highly or perfectly homologous 2.2-kb Eco RI fragments is in chromosome region 12q21q22, and suggest that a low-copy repetitive DNA probe as used here may have practical utility, as in detecting small deletions or other chromosome alterations.
ISSN:0002-9297
1537-6605