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Literature DB >> 6935681

A highly polymorphic locus in human DNA.

Abstract

A locus in the human genome, not associated with any specific gene, has been found to be a site of restriction fragment length polymorphism. The polymorphism was found by hybridizing a 16-kilobase-pair segment of single-copy human DNA, selected from the human genome library cloned in phage lambda CH4A, to a Southern transfer of total human DNA digested with EcoRI. DNAs from a number of individuals from within Mormon pedigrees as well as random individuals have been examined. The locus is highly variable, with at least eight alleles present, homozygotes accounting for less than 25% of the individuals examined. The polymorphism appears to be the result of DNA rearrangements rather than base-pair substitutions or modifications. Examination of the DNA from seven members of a family revealed fragment lengths that are consistent with their inheritance as Mendelian alleles through three generations.

Entities: Species

Mesh：

Substances：
DNA, Recombinant
DNA

Year: 1980 PMID： 6935681 PMCID： PMC350367 DOI： 10.1073/pnas.77.11.6754

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

20 in total

1. Sequence organization of the human genome.

Authors: C W Schmid; P L Deininger
Journal: Cell Date: 1975-11 Impact factor: 41.582

2. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

3. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.

Authors: P W Rigby; M Dieckmann; C Rhodes; P Berg
Journal: J Mol Biol Date: 1977-06-15 Impact factor: 5.469

4. A thermostable sequence-specific endonuclease from Thermus aquaticus.

Authors: S Sato; C A Hutchinson; J I Harris
Journal: Proc Natl Acad Sci U S A Date: 1977-02 Impact factor: 11.205

5. Translocatable elements in procaryotes.

Authors: N Kleckner
Journal: Cell Date: 1977-05 Impact factor: 41.582

6. Method for detection of specific RNAs in agarose gels by transfer to diazobenzyloxymethyl-paper and hybridization with DNA probes.

Authors: J C Alwine; D J Kemp; G R Stark
Journal: Proc Natl Acad Sci U S A Date: 1977-12 Impact factor: 11.205

7. The chromosome of bacteriophage T5. I. Analysis of the single-stranded DNA fragments by agarose gel electrophoresis.

Authors: G S Hayward; M G Smith
Journal: J Mol Biol Date: 1972-02-14 Impact factor: 5.469

8. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.

Authors: Y W Kan; A M Dozy
Journal: Proc Natl Acad Sci U S A Date: 1978-11 Impact factor: 11.205

9. Rat insulin genes: construction of plasmids containing the coding sequences.

Authors: A Ullrich; J Shine; J Chirgwin; R Pictet; E Tischer; W J Rutter; H M Goodman
Journal: Science Date: 1977-06-17 Impact factor: 47.728

10. Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion.

Authors: S H Orkin; B P Alter; C Altay; M J Mahoney; H Lazarus; J C Hobbins; D G Nathan
Journal: N Engl J Med Date: 1978-07-27 Impact factor: 91.245

178 in total

1. Solution-based scanning for single-base alterations using a double-stranded DNA binding dye and fluorescence-melting profiles.

Authors: K S Elenitoba-Johnson; S D Bohling
Journal: Am J Pathol Date: 2001-09 Impact factor: 4.307

A highly polymorphic locus in human DNA.

1. Sequence organization of the human genome.

2. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

3. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.

4. A thermostable sequence-specific endonuclease from Thermus aquaticus.

5. Translocatable elements in procaryotes.

6. Method for detection of specific RNAs in agarose gels by transfer to diazobenzyloxymethyl-paper and hybridization with DNA probes.

7. The chromosome of bacteriophage T5. I. Analysis of the single-stranded DNA fragments by agarose gel electrophoresis.

8. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.

9. Rat insulin genes: construction of plasmids containing the coding sequences.

10. Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion.

1. Solution-based scanning for single-base alterations using a double-stranded DNA binding dye and fluorescence-melting profiles.

2. Modulation of polymorphic loci detection with synthetic tandem repeat variants.

3. Characteristics of polymorphism at a VNTR locus 3' to the apolipoprotein B gene in five human populations.

4. A longitudinal study of X-inactivation ratio in human females.

5. Immunoglobulin heavy chain gene associations in myasthenia gravis: new evidence for disease heterogeneity.

6. Microsatellite polymorphism in natural populations of the wild plant Arabidopsis thaliana.

7. Isolation of microcell hybrid clones containing retroviral vector insertions into specific human chromosomes.

8. Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.

9. Nonsense mutation causing steroid 21-hydroxylase deficiency.

10. Presence of albumin mRNA precursors in nuclei of analbuminemic rat liver lacking cytoplasmic albumin mRNA.