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PMID: 3305309 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Diagnosis of genetic disease using recombinant DNA. Supplement.

Human genetics ·Vol. 77 ·No. 1 ·1987-09-00 ·Pages 66-75

Cooper DN, Schmidtke J

Abstract

Recombinant DNA methodology has greatly increased our knowledge of the molecular pathology of the human genome at the same time as providing the means to diagnose inherited disease as the DNA level. We present here a list of recent reports of both direct and indirect analysis of human inherited disease which is intended to serve as a guide to current molecular genetic approaches to diagnostic medicine.

MeSH Terms
DNA, Recombinant Genetic Diseases, Inborn/diagnosis Humans
Chemicals
DNA, Recombinant
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Cooper D N
Schmidtke J
References (157)
157 references, click to expand
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  120. Rearrangement of the beta chain of the T cell antigen receptor and immunoglobulin genes in lymphoproliferative disorders.
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  121. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
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  122. Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.
    Blood. 1986 Apr;67(4):1185-8 PMID: 3006832
  123. Analysis of the apolipoprotein B gene and messenger ribonucleic acid in abetalipoproteinemia.
    J Clin Invest. 1986 Dec;78(6):1707-12 PMID: 3782476
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  125. Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence.
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  127. Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families.
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  128. Embryonic zeta-globin chains in adults: a marker for alpha-thalassemia-1 haplotype due to a greater than 17.5-kb deletion.
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  129. Prenatal diagnosis using DNA probes in twins at risk for Duchenne muscular dystrophy.
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  130. The spectrum of beta-thalassemia genes in China and Southeast Asia.
    Blood. 1986 Oct;68(4):964-6 PMID: 2875755
  131. X-linked dominant hypophosphatemia is closely linked to DNA markers DXS41 and DXS43 at Xp22.
    Hum Genet. 1986 Jul;73(3):271-5 PMID: 3015771
  132. The screening of Duchenne muscular dystrophy patients for submicroscopic deletions.
    J Med Genet. 1986 Dec;23(6):516-20 PMID: 3806637
  133. DNA linkage analysis of X chromosome-linked chronic granulomatous disease.
    Proc Natl Acad Sci U S A. 1986 May;83(10):3398-401 PMID: 3010296
  134. Familial amyloidotic polyneuropathy diagnosed by cloned human prealbumin cDNA.
    Neurology. 1986 Feb;36(2):298-301 PMID: 3003621
  135. Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen.
    Hum Genet. 1986 Sep;74(1):41-6 PMID: 2875936
  136. Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome).
    Hum Genet. 1986 Oct;74(2):172-3 PMID: 3464559
  137. Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene.
    J Med Genet. 1986 Dec;23(6):587-90 PMID: 2879931
  138. Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.
    Lancet. 1986 Jul 12;2(8498):104 PMID: 2873362
  139. Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.
    J Clin Invest. 1986 Jul;78(1):6-12 PMID: 3722385
  140. Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe.
    N Engl J Med. 1985 Mar 14;312(11):682-6 PMID: 2983207
  141. Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.
    Hum Genet. 1986 Oct;74(2):178-80 PMID: 2876948
  142. Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers.
    Proc Natl Acad Sci U S A. 1986 Feb;83(4):1016-20 PMID: 3006023
  143. Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne muscular dystrophy mutation.
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  144. Immunoglobulin gene rearrangements and expression in diffuse histiocytic lymphomas reveal cellular lineage, molecular defects, and sites of chromosomal translocation.
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  145. Mapping of a gene for X-linked agammaglobulinemia and evidence for genetic heterogeneity.
    Hum Genet. 1986 Aug;73(4):327-32 PMID: 3502688
  146. Gamma delta beta-thalassaemias 1 and 2 are the result of a 100 kbp deletion in the human beta-globin cluster.
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  147. Linkage of cystic fibrosis to the pro alpha 2(I) collagen gene, COL1A2, on chromosome 7.
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  148. A register based system for gene tracking in Duchenne muscular dystrophy.
    J Med Genet. 1986 Dec;23(6):581-6 PMID: 2879930
  149. Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.
    Am J Hum Genet. 1986 Jun;38(6):841-7 PMID: 3014867
  150. Prenatal diagnosis of alpha 1-antitrypsin deficiency by restriction fragment length polymorphisms, and comparison with oligonucleotide probe analysis.
    Lancet. 1986 Oct 4;2(8510):767-70 PMID: 2876232
  151. Absence of human chorionic somatomammotropin during pregnancy associated with two types of gene deletion.
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00284717
Published
1987-09-00
Pages
66-75
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00284717 View journal details
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