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

Andrew Wyn Thomas; Ruth Morgan; Mary Sweeney; Alan Rees; John Alcolado

doi:10.1007/BF00206954

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

Andrew Wyn Thomas^*, Ruth Morgan, Mary Sweeney, Alan Rees, John Alcolado

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

23 Citations (Scopus)

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.

Original language	English
Pages (from-to)	621-623
Number of pages	3
Journal	Human Genetics
Volume	94
Issue number	6
DOIs	https://doi.org/10.1007/BF00206954
Publication status	Published - Dec 1994
Externally published	Yes

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title = "The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis",

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.",

author = "Thomas, {Andrew Wyn} and Ruth Morgan and Mary Sweeney and Alan Rees and John Alcolado",

year = "1994",

month = dec,

doi = "10.1007/BF00206954",

language = "English",

volume = "94",

pages = "621--623",

journal = "Human Genetics",

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T1 - The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis

AU - Thomas, Andrew Wyn

AU - Morgan, Ruth

AU - Sweeney, Mary

AU - Rees, Alan

AU - Alcolado, John

PY - 1994/12

Y1 - 1994/12

N2 - 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.

AB - 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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U2 - 10.1007/BF00206954

DO - 10.1007/BF00206954

M3 - Article

C2 - 7989037

AN - SCOPUS:0028018954

SN - 0340-6717

VL - 94

SP - 621

EP - 623

JO - Human Genetics

JF - Human Genetics

IS - 6

ER -

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

Abstract

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