Úvod Laboratorní plasty Zkumavky Microcentrifuge Tube 1.5 ml Microcentrifuge Tube SALSA MLPA P125 Mitochondria probemix - 100 reactions

SALSA MLPA P125 Mitochondria probemix - 100 reactions

SALSA MLPA P125 Mitochondria probemix - 100 reactions

application: Mitochondrial DNA (mtDNA)
region: Mitochondria Detailní informace

Cena s DPH € 1 147.08
Cena bez DPH € 948.00
 100 react
Dostupnost Skladem
Kód produktu P125-100R

Nejnovější informace o produktu naleznete exklusivně na stránkách výrobce MRC-Holland www.mlpa.com (nové okno)

Detailní popis SALSA MLPA P125 Mitochondria probemix - 100 reactions

P125-100R SALSA MLPA P125 Mitochondria probemix – 100 rxn

Mitochondrial DNA (mtDNA) differs from nuclear DNA in several ways. The complete mitochondrial genome is only 16,571 bp and is circular. Only a small number of genes needed for the mitochondrial function are found within mtDNA, most genes are located within chromosomal DNA. Human cells contain on average 300-400 copies of the mitochondrial genome.

Deletions in the mitochondrial DNA have been identified in various diseases including Pearson Syndrome, Kearns-Sayre Syndrome and Progressive external ophthalmoplegia. These deletions vary in size (1.3-8 kb) and location, but the most common deletion site is between positions 8469 and 13147. Diseases caused by mutations in mtDNA are characterised by heteroplasmy: a mixture of wild-type and mutant mtDNA is present in one cell. Usually, deletions in mtDNA are detected when smaller fragments than expected are formed during PCR.

Please note that identical deletions can cause different diseases depending on the tissue in which they occur. Because a deletion anywhere in the mitochondrial genome can also affect the transcription and translation of genes of which the sequence is intact, deletions of various sizes can cause similar phenotypes. Some tandem duplications of parts of the mitochondrial genome have also been described, as well as several mitochondrial point mutations resulting in a myopathie, such as MERRF and MELAS.

This P125-B1 Mitochondria probemix contains probes for 32 different mtDNA sequences that can be used to detect copy number changes. In addition, 5 mutation-specific probes specific for frequent mitochondrial point mutations, including the 3243A>G MELAS and the 8344A>G MERRF mutation, have been included. Due to the large difference in copy number between genomic and mitochondrial sequences, it is not possible to use reference probes targeting genomic sequences in this probemix, which is why no designated reference probes have been included.

MRC-Holland has not tested this probemix on patient samples. We have no information on the minimum percentage of mutant mtDNA copies that can be detected with this probemix. The percentage found will vary between tissues. Sensitivity of conventional PCR assays will be higher. However, this MLPA assay may have advantages in some cases.

Deletions of probe recognition sequences will be apparent by a reduced relative peak area of the amplification product of that probe. Apparent deletions of a single probe always require confirmation by other methods. We have no information on which percentage of defects in mtDNA is caused by deletions and/or duplications.

Mitochondrial DNA (mtDNA) differs from nuclear DNA in several ways. The complete mitochondrial genome is only 16,571 bp and is circular. Only a small number of genes needed for the mitochondrial function are found within mtDNA, most genes are located within chromosomal DNA. Human cells contain on average 300-400 copies of the mitochondrial genome.

Deletions in the mitochondrial DNA have been identified in various diseases including Pearson Syndrome, Kearns-Sayre Syndrome and Progressive external ophthalmoplegia. These deletions vary in size (1.3-8 kb) and location, but the most common deletion site is between positions 8469 and 13147. Diseases caused by mutations in mtDNA are characterised by heteroplasmy: a mixture of wild-type and mutant mtDNA is present in one cell. Usually, deletions in mtDNA are detected when smaller fragments than expected are formed during PCR.

Please note that identical deletions can cause different diseases depending on the tissue in which they occur. Because a deletion anywhere in the mitochondrial genome can also affect the transcription and translation of genes of which the sequence is intact, deletions of various sizes can cause similar phenotypes. Some tandem duplications of parts of the mitochondrial genome have also been described, as well as several mitochondrial point mutations resulting in a myopathie, such as MERRF and MELAS.

This P125-B1 Mitochondria probemix contains probes for 32 different mtDNA sequences that can be used to detect copy number changes. In addition, 5 mutation-specific probes specific for frequent mitochondrial point mutations, including the 3243A>G MELAS and the 8344A>G MERRF mutation, have been included. Due to the large difference in copy number between genomic and mitochondrial sequences, it is not possible to use reference probes targeting genomic sequences in this probemix, which is why no designated reference probes have been included.

MRC-Holland has not tested this probemix on patient samples. We have no information on the minimum percentage of mutant mtDNA copies that can be detected with this probemix. The percentage found will vary between tissues. Sensitivity of conventional PCR assays will be higher. However, this MLPA assay may have advantages in some cases.

Deletions of probe recognition sequences will be apparent by a reduced relative peak area of the amplification product of that probe. Apparent deletions of a single probe always require confirmation by other methods. We have no information on which percentage of defects in mtDNA is caused by deletions and/or duplications.

Mitochondrial DNA (mtDNA) differs from nuclear DNA in several ways. The complete mitochondrial genome is only 16,571 bp and is circular. Only a small number of genes needed for the mitochondrial function are found within mtDNA, most genes are located within chromosomal DNA. Human cells contain on average 300-400 copies of the mitochondrial genome.

Deletions in the mitochondrial DNA have been identified in various diseases including Pearson Syndrome, Kearns-Sayre Syndrome and Progressive external ophthalmoplegia. These deletions vary in size (1.3-8 kb) and location, but the most common deletion site is between positions 8469 and 13147. Diseases caused by mutations in mtDNA are characterised by heteroplasmy: a mixture of wild-type and mutant mtDNA is present in one cell. Usually, deletions in mtDNA are detected when smaller fragments than expected are formed during PCR.

Please note that identical deletions can cause different diseases depending on the tissue in which they occur. Because a deletion anywhere in the mitochondrial genome can also affect the transcription and translation of genes of which the sequence is intact, deletions of various sizes can cause similar phenotypes. Some tandem duplications of parts of the mitochondrial genome have also been described, as well as several mitochondrial point mutations resulting in a myopathie, such as MERRF and MELAS.

This P125-B1 Mitochondria probemix contains probes for 32 different mtDNA sequences that can be used to detect copy number changes. In addition, 5 mutation-specific probes specific for frequent mitochondrial point mutations, including the 3243A>G MELAS and the 8344A>G MERRF mutation, have been included. Due to the large difference in copy number between genomic and mitochondrial sequences, it is not possible to use reference probes targeting genomic sequences in this probemix, which is why no designated reference probes have been included.

MRC-Holland has not tested this probemix on patient samples. We have no information on the minimum percentage of mutant mtDNA copies that can be detected with this probemix. The percentage found will vary between tissues. Sensitivity of conventional PCR assays will be higher. However, this MLPA assay may have advantages in some cases.

Deletions of probe recognition sequences will be apparent by a reduced relative peak area of the amplification product of that probe. Apparent deletions of a single probe always require confirmation by other methods. We have no information on which percentage of defects in mtDNA is caused by deletions and/or duplications.

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