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Literature DB >> 3011642

Diagnosis of genetic disease using recombinant DNA.

Abstract

Recombinant DNA technology promises to make an important contribution to the analysis and diagnosis of inherited human disease. Direct detection and analysis of various genetic defects at the DNA level are now possible using cloned gene or oligonucleotide probes. In addition, the use of restriction fragment length polymorphisms associated with linked DNA segments should permit not only the diagnosis of hitherto undetectable disease states but also the chromosomal localization of the loci responsible. The eventual isolation of disease loci should lead to a better understanding of the molecular basis of inherited disease.

Entities: Chemical Disease

Mesh：

Substances：

Year: 1986 PMID： 3011642 DOI： 10.1007/bf00292654

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

178 in total

1. Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers.

Authors: R L Nussbaum; R A Lewis; J G Lesko; R Ferrell
Journal: Hum Genet Date: 1985 Impact factor: 4.132

2. Presymptomatic diagnosis of heterozygosity for familial amyloidotic polyneuropathy by recombinant DNA techniques.

Authors: H Sasaki; Y Sakaki; Y Takagi; K Sahashi; A Takahashi; T Isobe; T Shinoda; H Matsuo; I Goto; Y Kuroiwa
Journal: Lancet Date: 1985-01-12 Impact factor: 79.321

3. Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids.

Authors: L Roncuzzi; S Fadda; M Mochi; L Prosperi; S Sangiorgi; R Santamaria; D Sbarra; D Besana; L Morandi; M Rocchi
Journal: Am J Hum Genet Date: 1985-03 Impact factor: 11.025

4. Rearrangement of the gene for the beta chain of the T-cell receptor in T-cell chronic lymphocytic leukemia and related disorders.

Authors: A C Aisenberg; T G Krontiris; T W Mak; B M Wilkes
Journal: N Engl J Med Date: 1985-08-29 Impact factor: 91.245

5. Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.

Authors: P Wieacker; N Horn; P Pearson; T F Wienker; E McKay; H H Ropers
Journal: Hum Genet Date: 1983 Impact factor: 4.132

6. Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy.

Authors: D E Wilcox; N A Affara; J R Yates; M A Ferguson-Smith; P L Pearson
Journal: Hum Genet Date: 1985 Impact factor: 4.132

7. Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.

Authors: D Valerio; M G Duyvesteyn; H van Ormondt; P Meera Khan; A J van der Eb
Journal: Nucleic Acids Res Date: 1984-01-25 Impact factor: 16.971

Diagnosis of genetic disease using recombinant DNA.

1. Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers.

2. Presymptomatic diagnosis of heterozygosity for familial amyloidotic polyneuropathy by recombinant DNA techniques.

3. Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids.

4. Rearrangement of the gene for the beta chain of the T-cell receptor in T-cell chronic lymphocytic leukemia and related disorders.

5. Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.

6. Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy.

7. Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.

8. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.

9. Structural gene for beta-nerve growth factor not defective in familial dysautonomia.

10. A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

1. Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.

2. Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation.

3. Introduction to DNA-Based Genetic Diagnostics.

4. The CpG dinucleotide and human genetic disease.

5. Bioassays. Patents and literature.

Review 6. Diagnosis of genetic disease using recombinant DNA. Second edition.

7. Start a DNA diagnostic service.

8. Physiological genetics--who needs it?

Review 9. Diagnosis of human genetic disease using recombinant DNA. Fourth edition.

Review 10. Diagnosis of genetic disease using recombinant DNA. Supplement.