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Open AccessJournal ArticleDOI

Genetic fine-structure mapping in human chromosome 11 by use of repetitive DNA sequences

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TLDR
This approach appears to be widely applicable, is independent of cytogenetic analysis, promises to be capable of revealing the existence of rearrangements as well as deletions, appears to been amenable to further increase in resolving power, and offers potential application in various human genetic problems.
Abstract
A method is described for mapping of the DNA fragments of a human chromosome produced by restriction enzyme treatment of the total DNA from a hybrid cell containing a single human chromosome. The method involves production and selection of somatic cell mutants containing deletions of the human chromosome and application of a hybridization probe consisting of an individual member copy of a repetitive human DNA family. A linear map has been constructed of 19 marker DNA fragments and 5 immunological and biochemical markers on human chromosome 11, selected as a model chromosome for these studies. This approach appears to be widely applicable, is independent of cytogenetic analysis, promises to be capable of revealing the existence of rearrangements as well as deletions, appears to be amenable to further increase in resolving power, and offers potential application in various human genetic problems.

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Book ChapterDOI

The molecular genetics of human hemoglobin.

TL;DR: The recognition of linked polymorphisms, the development of mutation-specific oligonucleotide probes, and the possibility of first-trimester chrionic villus biopsy have made the prenatal diagnosis of sickle-cell anemia and β-thalassemias of immediate applicability, and appropriate resources must be marshaled to offer this technology to the areas of the world where it is most needed.
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Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis

TL;DR: In situ hybridization to intact interphase nuclei showed a well-defined, localized organization for both DNA sequences, which allow novel molecular cytogenetic analyses in numerous basic research and clinical studies.
Journal ArticleDOI

Potential genetic functions of tandem repeated DNA sequence blocks in the human genome are based on a highly conserved “chromatin folding code”

TL;DR: There is an inherent potential for tandem repeated sequence units to develop a locus-specific repetitive higher order structure; this potential may create a specific chromatin folding code whenever a selection force exists at the position of this repetitive DNA structure in the genome.
Journal ArticleDOI

The distribution of interspersed repetitive DNA sequences in the human genome.

TL;DR: An analysis of the distribution of Alu repetitive sequences appearing in the GenBank sequence database indicates that there are local domains with varying Alu placement densities, and in situ hybridization to human metaphase chromosomes indicates that local density domains for AlU placement can be observed cytologically.
Journal ArticleDOI

Stable expression of immunoglobulin gene V(D)J recombinase activity by gene transfer into 3T3 fibroblasts

TL;DR: It is likely that expression of a single, lymphoid-specific gene in a fibroblast is sufficient to confer V(D)J recombinase activity on that cell.
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