Home LiteratureArticle Details
PMID: 7035333 Published · ppublish English Journal Article Review

The application of DNA recombinant technology to the analysis of the human genome and genetic disease.

Human genetics ·Vol. 58 ·No. 4 ·1981-00-00 ·Pages 351-7

Davies KE

Abstract

Recombinant DNA technology permits the isolation of libraries of DNA sequences corresponding to either the whole genome of an individual or the expressed sequences of a given cell type. Gene-specific probes isolated from these libraries may be used for the identification of DNA sequences in the genome necessary for normal gene function and for the study of the consequences of mutations and rearrangements in these sequences which give rise to the clinical symptoms in genetic disease. DNA sequence polymorphisms can be used to construct a genetic linkage map of the entire human genome. This allows the development of antenatal diagnoses for monogenic diseases even in the absence of an understanding of the biochemical defect.

MeSH Terms
Base Sequence Chromosome Aberrations Chromosome Mapping Chromosomes, Human/ultrastructure Containment of Biohazards DNA/analysis DNA, Recombinant Genes Genetic Diseases, Inborn/genetics Humans
Chemicals
DNA, Recombinant DNA
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Davies K E
References (55)
55 references, click to expand
  1. Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance.
    Cell. 1978 Sep;15(1):25-41 PMID: 699045
  2. Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.
    Am J Hum Genet. 1970 Jan;22(1):50-4 PMID: 5411648
  3. The status of the gene map of the human chromosomes.
    Science. 1977 Apr 22;196(4288):390-405 PMID: 850784
  4. Gene transfer by means of cell fusion I. Statistical mapping of the human X-chromosome by analysis of radiation-induced gene segregation.
    J Cell Sci. 1977 Jun;25:17-37 PMID: 561093
  5. Mammalian gonadal determination and gametogenesis.
    Science. 1981 Mar 20;211(4488):1265-71 PMID: 6259727
  6. Parasexual approaches to the genetics of man.
    Annu Rev Genet. 1975;9:407-86 PMID: 1108769
  7. The prior probability of autosomal linkage.
    Ann Hum Genet. 1975 Jan;38(3):341-50 PMID: 1137348
  8. The Wilhelmine E. Key 1979 Invitational Lecture: The anatomy of the human genome.
    J Hered. 1980 Nov-Dec;71(6):370-91 PMID: 6783695
  9. Sequence of the human insulin gene.
    Nature. 1980 Mar 6;284(5751):26-32 PMID: 6243748
  10. Phenotypic expression in E. coli of a DNA sequence coding for mouse dihydrofolate reductase.
    Nature. 1978 Oct 19;275(5681):617-24 PMID: 360074
  11. Isolation of unique sequence human X chromosomal deoxyribonucleic acid.
    Biochemistry. 1980 May 27;19(11):2419-28 PMID: 7190026
  12. Structural gene identification and mapping by DNA-mRNA hybrid-arrested cell-free translation.
    Proc Natl Acad Sci U S A. 1977 Oct;74(10):4370-4 PMID: 270678
  13. Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).
    N Engl J Med. 1980 Sep 18;303(12):662-4 PMID: 6931286
  14. Enemies within: the genesis of retrovirus oncogenes.
    Cell. 1981 Jan;23(1):5-6 PMID: 7214527
  15. Repeated sequences in DNA. Hundreds of thousands of copies of DNA sequences have been incorporated into the genomes of higher organisms.
    Science. 1968 Aug 9;161(3841):529-40 PMID: 4874239
  16. Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
    Am J Hum Genet. 1980 May;32(3):314-31 PMID: 6247908
  17. The isolation of structural genes from libraries of eucaryotic DNA.
    Cell. 1978 Oct;15(2):687-701 PMID: 719759
  18. Sequence organization of animal nuclear DNA.
    Hum Genet. 1980;55(1):1-18 PMID: 6256281
  19. Isolation and localization of DNA segments from specific human chromosomes.
    Proc Natl Acad Sci U S A. 1980 May;77(5):2829-33 PMID: 6930670
  20. Application of endonuclease mapping to the analysis and prenatal diagnosis of thalassemias caused by globin-gene deletion.
    N Engl J Med. 1978 Jul 27;299(4):166-72 PMID: 661890
  21. Chromosomal localization of a single copy gene by in situ hybridization--human beta globin genes on the short arm of chromosome 11.
    Ann Hum Genet. 1981 May;45(2):135-41 PMID: 6172077
  22. The isolation of cloned cDNA sequences which are differentially expressed in human lymphocytes and fibroblasts.
    Nucleic Acids Res. 1980 Dec 20;8(24):6007-17 PMID: 6162155
  23. The origin of human cancers.
    Nature. 1981 Jan 29;289(5796):353-7 PMID: 6258076
  24. Screening lambdagt recombinant clones by hybridization to single plaques in situ.
    Science. 1977 Apr 8;196(4286):180-2 PMID: 322279
  25. The detection and use of hemoglobin mutants in the direct analysis of human globin genes.
    Blood. 1980 Jun;55(6):1060-2 PMID: 6246994
  26. Unsuccessful trial of gene replacement in arginase deficiency.
    Z Kinderheilkd. 1975;119(1):1-3 PMID: 164740
  27. Partial purification and characterization of DNA from the human X chromosome.
    Proc Natl Acad Sci U S A. 1979 Dec;76(12):6525-8 PMID: 293740
  28. Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry.
    Nature. 1981 Oct 1;293(5831):374-6 PMID: 6456416
  29. Immunological screening method to detect specific translation products.
    Proc Natl Acad Sci U S A. 1978 Jun;75(6):2746-9 PMID: 96441
  30. The occurrence of families of repetitive sequences in a library of cloned cDNA from human lymphocytes.
    Nucleic Acids Res. 1981 Aug 11;9(15):3821-34 PMID: 6169012
  31. Rabbit haemoglobin synthesis in frog cells: the translation of reticulocyte 9 s RNA in frog oocytes.
    J Mol Biol. 1971 Oct 14;61(1):73-91 PMID: 5169490
  32. An efficient mRNA-dependent translation system from reticulocyte lysates.
    Eur J Biochem. 1976 Aug 1;67(1):247-56 PMID: 823012
  33. Measurement and purification of human chromosomes by flow cytometry and sorting.
    Proc Natl Acad Sci U S A. 1979 Mar;76(3):1382-4 PMID: 286320
  34. Orphons: dispersed genetic elements derived from tandem repetitive genes of eucaryotes.
    Cell. 1981 Mar;23(3):651-63 PMID: 6784929
  35. A highly polymorphic locus in human DNA.
    Proc Natl Acad Sci U S A. 1980 Nov;77(11):6754-8 PMID: 6935681
  36. Transposable elements.
    Cell. 1980 Jul;20(3):579-95 PMID: 6251969
  37. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.
    Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245-9 PMID: 265567
  38. Molecular cloning of developmentally regulated, low-abundance mRNA sequences from embryonic muscle.
    Proc Natl Acad Sci U S A. 1980 Aug;77(8):4519-23 PMID: 6933500
  39. Model for antenatal diagnosis of beta-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms.
    Nature. 1980 May 15;285(5761):144-7 PMID: 6246441
  40. Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.
    Proc Natl Acad Sci U S A. 1978 Nov;75(11):5631-5 PMID: 281713
  41. Colony hybridization: a method for the isolation of cloned DNAs that contain a specific gene.
    Proc Natl Acad Sci U S A. 1975 Oct;72(10):3961-5 PMID: 1105573
  42. Method for detection of specific RNAs in agarose gels by transfer to diazobenzyloxymethyl-paper and hybridization with DNA probes.
    Proc Natl Acad Sci U S A. 1977 Dec;74(12):5350-4 PMID: 414220
  43. Localisation of the G gamma-, A gamma-, delta- and beta-globin genes on the short arm of human chromosome 11.
    Nature. 1979 Oct 18;281(5732):606-8 PMID: 492329
  44. Structure of the human fetal globin gene locus.
    Nature. 1979 Mar 15;278(5701):227-31 PMID: 423971
  45. Genetics and cancer.
    Biochim Biophys Acta. 1980 Nov 26;605(4):369-410 PMID: 7006699
  46. Assignment of human beta-, gamma-, and delta-globin genes to the short arm of chromosome 11 by chromosome sorting and DNA restriction enzyme analysis.
    Proc Natl Acad Sci U S A. 1979 Nov;76(11):5804-8 PMID: 293684
  47. Construction and selection of recombinant plasmids containing full-length complementary DNAs corresponding to rat insulins I and II.
    Proc Natl Acad Sci U S A. 1979 Oct;76(10):5036-40 PMID: 388427
  48. Detection of specific sequences among DNA fragments separated by gel electrophoresis.
    J Mol Biol. 1975 Nov 5;98(3):503-17 PMID: 1195397
  49. Prenatal diagnosis of human genome variation.
    Annu Rev Genet. 1979;13:235-58 PMID: 231930
  50. Transfer of purified herpes virus thymidine kinase gene to cultured mouse cells.
    Cell. 1977 May;11(1):223-32 PMID: 194704
  51. Transfer of genetic information by purified metaphase chromosomes.
    Proc Natl Acad Sci U S A. 1973 Apr;70(4):1258-62 PMID: 4515624
  52. Human Y-chromosome-specific reiterated DNA.
    Science. 1976 Mar 19;191(4232):1189-90 PMID: 1257744
  53. DNA sequence variants in the G gamma-, A gamma-, delta- and beta-globin genes of man.
    Cell. 1979 Sep;18(1):1-10 PMID: 509514
  54. A new method for the preparation of metaphase chromosomes for flow analysis.
    J Histochem Cytochem. 1981 Jan;29(1):74-8 PMID: 6162882
  55. A colony bank containing synthetic Col El hybrid plasmids representative of the entire E. coli genome.
    Cell. 1976 Sep;9(1):91-9 PMID: 788919
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1981-00-00
Pages
351-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com