Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis
| ISSN: |
0890-8508
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|---|---|
| Keywords: |
SSCP ; cystic fibrosis ; mutation analysis ; neurofibromatosis type 1
|
| Source: |
Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
|
| Topics: |
Biology
Medicine
|
| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798292087178788864 |
|---|---|
| autor | Lazaro, C. Estivill, X. |
| autorsonst | Lazaro, C. Estivill, X. |
| book_url | http://dx.doi.org/10.1016/0890-8508(92)90027-U |
| datenlieferant | nat_lic_papers |
| fussnote | The Single Strand Conformation Polymorphism (SSCP) technique is widely used in mutation analysis. We have introduced several modifications to the SSCP method, which overcome the problem of incomplete denaturation or reannealing of DNA during electrophoresis. The modifications consist of asymmetrical PCR amplification of the sequence of interest, electrophoresis with a higher concentration of acrylamide, and the analysis of the DNA fragments under u.v. light. We have applied this method to the analysis of two specific diseases: neurofibromatosis type 1 (NF1) and cystic fibrosis (CF) from PCR amplified exons. Two single nucleotide changes were observed with this method. |
| hauptsatz | hsatz_simple |
| identnr | NLZ183750403 |
| iqvoc_descriptor_keyword | iqvoc_00000708:analysis |
| iqvoc_descriptor_title | iqvoc_00000708:analysis |
| issn | 0890-8508 |
| journal_name | Molecular and Cellular Probes |
| materialart | 1 |
| package_name | Elsevier |
| publikationsort | Amsterdam |
| publisher | Elsevier |
| reference | 6 (1992), S. 357-359 |
| schlagwort | SSCP cystic fibrosis mutation analysis neurofibromatosis type 1 |
| search_space | articles |
| shingle_author_1 | Lazaro, C. Estivill, X. |
| shingle_author_2 | Lazaro, C. Estivill, X. |
| shingle_author_3 | Lazaro, C. Estivill, X. |
| shingle_author_4 | Lazaro, C. Estivill, X. |
| shingle_catch_all_1 | Lazaro, C. Estivill, X. Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis SSCP cystic fibrosis mutation analysis neurofibromatosis type 1 SSCP cystic fibrosis mutation analysis neurofibromatosis type 1 0890-8508 08908508 Elsevier |
| shingle_catch_all_2 | Lazaro, C. Estivill, X. Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis SSCP cystic fibrosis mutation analysis neurofibromatosis type 1 SSCP cystic fibrosis mutation analysis neurofibromatosis type 1 0890-8508 08908508 Elsevier |
| shingle_catch_all_3 | Lazaro, C. Estivill, X. Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis SSCP cystic fibrosis mutation analysis neurofibromatosis type 1 SSCP cystic fibrosis mutation analysis neurofibromatosis type 1 0890-8508 08908508 Elsevier |
| shingle_catch_all_4 | Lazaro, C. Estivill, X. Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis SSCP cystic fibrosis mutation analysis neurofibromatosis type 1 SSCP cystic fibrosis mutation analysis neurofibromatosis type 1 0890-8508 08908508 Elsevier |
| shingle_title_1 | Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis |
| shingle_title_2 | Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis |
| shingle_title_3 | Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis |
| shingle_title_4 | Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Elsevier Journal Backfiles on ScienceDirect 1907 - 2002 |
| timestamp | 2024-05-06T08:42:56.833Z |
| titel | Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis |
| titel_suche | Mutation analysis of genetic diseases by asymmetric-PCR SSCP and ethidium bromide staining: application to neurofibromatosis and cystic fibrosis The Single Strand Conformation Polymorphism (SSCP) technique is widely used in mutation analysis. We have introduced several modifications to the SSCP method, which overcome the problem of incomplete denaturation or reannealing of DNA during electrophoresis. The modifications consist of asymmetrical PCR amplification of the sequence of interest, electrophoresis with a higher concentration of acrylamide, and the analysis of the DNA fragments under u.v. light. We have applied this method to the analysis of two specific diseases: neurofibromatosis type 1 (NF1) and cystic fibrosis (CF) from PCR amplified exons. Two single nucleotide changes were observed with this method. |
| topic | W WW-YZ |
| uid | nat_lic_papers_NLZ183750403 |