Literature DB >> 2570401

Detection of novel genetic markers by mismatch analysis.

R G Roberts1, A J Montandon, M Bobrow, D R Bentley.   

Abstract

Chemical mismatch detection has been used to identify previously unknown genomic sequence variations that represent a new source of markers for genetic analysis. The approach detects all types of sequence changes, and therefore overcomes the limitation of restriction analysis, which identifies only a small fraction of the available sequence variations. Three new markers identified at the 3' end of the human dystrophin gene result from variable numbers of exact tandem repeats of 4bp (two examples) or 5bp (one example). None of these would have been detected as restriction fragment length polymorphisms by established procedures.

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Year:  1989        PMID： 2570401      PMCID： PMC318253          DOI： 10.1093/nar/17.15.5961

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  22 in total

1.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

2.  Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

Authors:  R G Cotton; N R Rodrigues; R D Campbell
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

3.  A genetic linkage map of the human genome.

Authors:  H Donis-Keller; P Green; C Helms; S Cartinhour; B Weiffenbach; K Stephens; T P Keith; D W Bowden; D R Smith; E S Lander
Journal:  Cell       Date:  1987-10-23       Impact factor: 41.582

4.  An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

Authors:  S C Kogan; M Doherty; J Gitschier
Journal:  N Engl J Med       Date:  1987-10-15       Impact factor: 91.245

5.  Prenatal testing for Duchenne and Becker muscular dystrophy.

Authors:  C G Cole; A Walker; A Coyne; L Johnson; K A Hart; S Hodgson; R Sheridan; M Bobrow
Journal:  Lancet       Date:  1988-02-06       Impact factor: 79.321

6.  The X chromosome shows less genetic variation at restriction sites than the autosomes.

Authors:  M H Hofker; M I Skraastad; A A Bergen; M C Wapenaar; E Bakker; A Millington-Ward; G J van Ommen; P L Pearson
Journal:  Am J Hum Genet       Date:  1986-10       Impact factor: 11.025

7.  Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy.

Authors:  K H Fischbeck; A W Ritter; D L Tirschwell; L M Kunkel; C J Bertelson; A P Monaco; J F Hejtmancik; C Boehm; V Ionasescu; R Ionasescu
Journal:  Lancet       Date:  1986-07-12       Impact factor: 79.321

8.  Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

Authors:  M Koenig; E P Hoffman; C J Bertelson; A P Monaco; C Feener; L M Kunkel
Journal:  Cell       Date:  1987-07-31       Impact factor: 41.582

9.  The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.

Authors:  M Koenig; A P Monaco; L M Kunkel
Journal:  Cell       Date:  1988-04-22       Impact factor: 41.582

10.  Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.

Authors:  H Dorkins; C Junien; J L Mandel; K Wrogemann; J P Moison; M Martinez; J M Old; S Bundey; M Schwartz; N Carpenter
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
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  13 in total

1.  A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV.

Authors:  A J Richards; J C Lloyd; P Narcisi; P N Ward; A C Nicholls; A De Paepe; F M Pope
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

2.  Detection of single base mismatches of thymine and cytosine residues by potassium permanganate and hydroxylamine in the presence of tetralkylammonium salts.

Authors:  J A Gogos; M Karayiorgou; H Aburatani; F C Kafatos
Journal:  Nucleic Acids Res       Date:  1990-12-11       Impact factor: 16.971

3.  Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.

Authors:  C Oudet; R Heilig; A Hanauer; J L Mandel
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

4.  Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene.

Authors:  C A Feener; F M Boyce; L M Kunkel
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

5.  A MaeIII polymorphism near the dystrophin gene promoter by restriction of amplified DNA.

Authors:  R G Roberts; M Bobrow; D R Bentley
Journal:  Nucleic Acids Res       Date:  1990-03-11       Impact factor: 16.971

6.  An STS in the human IL7 gene located at 8q12-13.

Authors:  L L Brunton; S D Lupton
Journal:  Nucleic Acids Res       Date:  1990-03-11       Impact factor: 16.971

7.  A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation.

Authors:  A J Richards; P N Ward; P Narcisi; A C Nicholls; J C Lloyd; F M Pope
Journal:  Hum Genet       Date:  1992-06       Impact factor: 4.132

8.  Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region.

Authors:  L Florentin; C Bili; K Kekou; N Tripodis; A Mavrou; C Metaxotou
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

9.  Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles.

Authors:  E C Landels; P M Green; I H Ellis; A H Fensom; M Bobrow
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

10.  Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.

Authors:  L Florentin; A Mavrou; K Kekou; C Metaxotou
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318
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