Literature DB >> 2878113

Direct DNA analysis in family studies.

S Malcolm.   

Abstract

Restriction fragment length polymorphisms can be followed through families to track the incidence of genetic disease. Either cloned genes or anonymous DNA fragments, closely linked to the disease locus, may be used. 10 mL of blood collected into EDTA provide an excellent source of DNA and the blood is suitable for up to 3 days. In addition to gene tracking, the gene mutation itself may be studied to determine whether there is a DNA deletion.

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Year:  1986        PMID: 2878113     DOI: 10.1007/bf01800856

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


  11 in total

1.  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

2.  Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose.

Authors:  P S Thomas
Journal:  Proc Natl Acad Sci U S A       Date:  1980-09       Impact factor: 11.205

3.  Applications and limitations of direct DNA analysis in genetic prediction.

Authors:  M E Pembrey
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

Review 4.  Advances in thalassemia research.

Authors:  A W Nienhuis; N P Anagnou; T J Ley
Journal:  Blood       Date:  1984-04       Impact factor: 22.113

5.  Immunological method for mapping genes on Drosophila polytene chromosomes.

Authors:  P R Langer-Safer; M Levine; D C Ward
Journal:  Proc Natl Acad Sci U S A       Date:  1982-07       Impact factor: 11.205

6.  DNA methylation at a CCGG sequence in the large intron of the rabbit beta-globin gene: tissue-specific variations.

Authors:  C Waalwijk; R A Flavell
Journal:  Nucleic Acids Res       Date:  1978-12       Impact factor: 16.971

7.  Detection and sequence of mutations in the factor VIII gene of haemophiliacs.

Authors:  J Gitschier; W I Wood; E G Tuddenham; M A Shuman; T M Goralka; E Y Chen; R M Lawn
Journal:  Nature       Date:  1985 May 30-Jun 5       Impact factor: 49.962

8.  Antenatal diagnosis of sickle cell anaemia by direct analysis of the sickle mutation.

Authors:  J C Chang; Y W Kan
Journal:  Lancet       Date:  1981-11-21       Impact factor: 79.321

9.  Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome.

Authors:  M H Hutz; A M Michelson; S E Antonarakis; S H Orkin; H H Kazazian
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

10.  HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.

Authors:  P C White; M I New; B Dupont
Journal:  Proc Natl Acad Sci U S A       Date:  1984-12       Impact factor: 11.205

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  3 in total

1.  Diagnostic uses of DNA analysis: powerful but problematic.

Authors: 
Journal:  J Inherit Metab Dis       Date:  1999-08       Impact factor: 4.982

2.  Haplotype distribution and mutations at the PAH locus in Croatia.

Authors:  I Barić; D Mardesić; G Gjurić; V Sarnavka; B Göbel-Schreiner; U Lichter-Konecki; D S Konecki; F K Trefz
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

3.  Diabetes mellitus, atherosclerosis, and the 5' flanking polymorphism of the human insulin gene.

Authors:  T Mandrup-Poulsen; D Owerbach; J Nerup; K Johansen; A Tybjaerg Hansen
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

  3 in total

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