NDLI: Macromolecular organization of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats.

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Macromolecular organization of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats.

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Macromolecular organization of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Cutting, G. R. Jabs, E. W. Goble, C. A.
Description	Author Affiliation: Jabs EW ( Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.);
Abstract	To analyze the macromolecular organization of human centromeric regions, we used alpha-satellite, or alphoid, repetitive DNA sequences specific to the centromeres of human chromosomes 6 (D6Z1), X (XC), and Y (YC-2) and the technique of pulsed-field gel electrophoresis. Genomic DNA from 24 normal, unrelated individuals was digested and separated into fragments ranging from 23 kilobases (kb) to 2 megabases (Mb) in length. Digestion with 12 different restriction enzymes with 4- to 8-base-pair recognition sequences and hybridization with alphoid sequences revealed chromosome-specific hybridization patterns. Similarities in the organization of the centromeric regions of the three chromosomes included NotI, SfiI, and SalI fragments of greater than 2 Mb and Sau3A1 and Alu I fragments of less than 150 kb. Each restriction enzyme with a 6-base-pair recognition sequence (Ava II, BamHI, HindIII, Hpa I, Pst I, Sal I, Sst I, and Xba I) detected polymorphic DNA fragments of 50 kb to 2 Mb. Forty percent or more of the individuals screened revealed a unique hybridization pattern with these enzymes and at least one of the three chromosome-specific alphoid probes. Five individuals differed from one another in hybridization pattern for each of the three enzymes HindIII, HpaI, and SstI and for each of the three centromeric probes. All 24 individuals could be distinguished on the basis of unique hybridization patterns with only two enzymes and one chromosome-specific alphoid probe. Family studies showed that these polymorphisms are inherited. The high frequency of these macro restriction fragment length polymorphisms illustrates the high degree of variability of the centromeric region among normal individuals and demonstrates its usefulness for DNA fingerprinting and pericentromeric mapping by linkage analysis.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	1
Volume Number	86
Language	English
Publisher	National Academy of Sciences
Publisher Date	1989-02-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Centromere Ultrastructure Chromosomes, Human Chromosomes DNA Isolation & Purification Polymorphism, Genetic Y Chromosome Genetics Genes Molecular Weight Repetitive Sequences, Nucleic Acid Restriction Mapping Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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