Literature DB >> 7989037

The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis.

A W Thomas1, R Morgan, M Sweeney, A Rees, J Alcolado.   

Abstract

A number of mitochondrial (mt) point mutations have been associated with inherited disorders. These pathogenic mutations are usually heteroplasmic. Here we describe the identification of three heteroplasmic mtDNA point mutations using the techniques of single stranded conformation polymorphism (SSCP) and heteroduplex analysis.

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Year:  1994        PMID： 7989037     DOI： 10.1007/BF00206954

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


  10 in total

Review 1.  Diseases resulting from mitochondrial DNA point mutations.

Authors:  D C Wallace; M T Lott; J M Shoffner; M D Brown
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 2.  Diseases of the mitochondrial DNA.

Authors:  D C Wallace
Journal:  Annu Rev Biochem       Date:  1992       Impact factor: 23.643

3.  Detecting single base substitutions as heteroduplex polymorphisms.

Authors:  M B White; M Carvalho; D Derse; S J O'Brien; M Dean
Journal:  Genomics       Date:  1992-02       Impact factor: 5.736

4.  A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Authors:  I J Holt; A E Harding; R K Petty; J A Morgan-Hughes
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

5.  Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene.

Authors:  M G Sweeney; S Bundey; M Brockington; K R Poulton; J B Winer; A E Harding
Journal:  Q J Med       Date:  1993-11

6.  Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy.

Authors:  M G Sweeney; M Brockington; M J Weston; J A Morgan-Hughes; A E Harding
Journal:  Q J Med       Date:  1993-07

7.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal:  Nature       Date:  1981-04-09       Impact factor: 49.962

8.  Detection of mutations in insulin-receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms.

Authors:  S O'Rahilly; W H Choi; P Patel; R C Turner; J S Flier; D E Moller
Journal:  Diabetes       Date:  1991-06       Impact factor: 9.461

9.  Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.

Authors:  W Reardon; R J Ross; M G Sweeney; L M Luxon; M E Pembrey; A E Harding; R C Trembath
Journal:  Lancet       Date:  1992-12-05       Impact factor: 79.321

10.  Mitochondrial gene defects in patients with NIDDM.

Authors:  J C Alcolado; A Majid; M Brockington; M G Sweeney; R Morgan; A Rees; A E Harding; A H Barnett
Journal:  Diabetologia       Date:  1994-04       Impact factor: 10.122
  10 in total
  4 in total

1.  Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis.

Authors:  S Finnilä; I E Hassinen; L Ala-Kokko; K Majamaa
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

2.  Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus.

Authors:  A W Thomas; A Edwards; E J Sherratt; A Majid; J Gagg; J C Alcolado
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

3.  Detection of mitochondrial DNA mutations in patients with diabetes mellitus.

Authors:  A W Thomas; R Morgan; A Majid; A Rees; J C Alcolado
Journal:  Diabetologia       Date:  1995-03       Impact factor: 10.122

4.  Assessment of hepatitis C virus sequence complexity by electrophoretic mobilities of both single-and double-stranded DNAs.

Authors:  Y M Wang; S C Ray; O Laeyendecker; J R Ticehurst; D L Thomas
Journal:  J Clin Microbiol       Date:  1998-10       Impact factor: 5.948
  4 in total

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