A highly polymorphic locus in human DNA.
- 1 November 1980
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 77 (11), 6754-6758
- https://doi.org/10.1073/pnas.77.11.6754
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.This publication has 20 references indexed in Scilit:
- Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.Proceedings of the National Academy of Sciences, 1978
- Application of Endonuclease Mapping to the Analysis and Prenatal Diagnosis of Thalassemias Caused by Globin-Gene DeletionNew England Journal of Medicine, 1978
- Method for detection of specific RNAs in agarose gels by transfer to diazobenzyloxymethyl-paper and hybridization with DNA probes.Proceedings of the National Academy of Sciences, 1977
- Rat Insulin Genes: Construction of Plasmids Containing the Coding SequencesScience, 1977
- Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase IJournal of Molecular Biology, 1977
- Translocatable elements in procaryotesCell, 1977
- A thermostable sequence-specific endonuclease from Thermus aquaticus.Proceedings of the National Academy of Sciences, 1977
- Sequence organization of the human genomeCell, 1975
- Detection of specific sequences among DNA fragments separated by gel electrophoresisJournal of Molecular Biology, 1975
- The chromosome of bacteriophage T5: I. Analysis of the single-stranded DNA fragments by agarose gel electrophoresisJournal of Molecular Biology, 1972