Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors.
The technique of single-strand conformation polymorphism (SSCP) was used to screen a series of 37 established colorectal cell lines, 22 fresh tumor samples, and 22 normal DNA samples for mutations in the beta 2-microglobulin gene. Exon 1 (including the leader peptide sequence) and exon 2 were screen...
| Main Authors: | , , |
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| Format: | Journal article |
| Language: | English |
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1994
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| _version_ | 1797100252537290752 |
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| author | Bicknell, D Rowan, A Bodmer, W |
| author_facet | Bicknell, D Rowan, A Bodmer, W |
| author_sort | Bicknell, D |
| collection | OXFORD |
| description | The technique of single-strand conformation polymorphism (SSCP) was used to screen a series of 37 established colorectal cell lines, 22 fresh tumor samples, and 22 normal DNA samples for mutations in the beta 2-microglobulin gene. Exon 1 (including the leader peptide sequence) and exon 2 were screened separately. Six of 37 colorectal cell lines and 1 of 22 fresh tumors were shown to contain mutations, whereas no mutations were detected in the normal DNA samples. Sequencing of these mutations showed that an 8-bp CT repeat in the leader peptide sequence was particularly variable, since 3 of the cell lines and one fresh tumor sample have deletions in this region. In the related cell lines, DLD-1 and HCT-15, two similar mutations were identified, a C-->A substitution in codon 10 and a G-->T mutation in the splice sequence of intron 1. Expression of beta 2-microglobulin was examined using a series of monoclonal antibodies in an ELISA system. Reduced expression correlated with a mutation in one allele of beta 2-microglobulin, whereas loss of expression was seen in instances where a line was homozygous for a mutation or heterozygous for two mutations. |
| first_indexed | 2024-03-07T05:35:03Z |
| format | Journal article |
| id | oxford-uuid:e39b8d94-8879-472b-ab30-0a72efcab9c0 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T05:35:03Z |
| publishDate | 1994 |
| record_format | dspace |
| spelling | oxford-uuid:e39b8d94-8879-472b-ab30-0a72efcab9c02022-03-27T10:10:16ZBeta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:e39b8d94-8879-472b-ab30-0a72efcab9c0EnglishSymplectic Elements at Oxford1994Bicknell, DRowan, ABodmer, WThe technique of single-strand conformation polymorphism (SSCP) was used to screen a series of 37 established colorectal cell lines, 22 fresh tumor samples, and 22 normal DNA samples for mutations in the beta 2-microglobulin gene. Exon 1 (including the leader peptide sequence) and exon 2 were screened separately. Six of 37 colorectal cell lines and 1 of 22 fresh tumors were shown to contain mutations, whereas no mutations were detected in the normal DNA samples. Sequencing of these mutations showed that an 8-bp CT repeat in the leader peptide sequence was particularly variable, since 3 of the cell lines and one fresh tumor sample have deletions in this region. In the related cell lines, DLD-1 and HCT-15, two similar mutations were identified, a C-->A substitution in codon 10 and a G-->T mutation in the splice sequence of intron 1. Expression of beta 2-microglobulin was examined using a series of monoclonal antibodies in an ELISA system. Reduced expression correlated with a mutation in one allele of beta 2-microglobulin, whereas loss of expression was seen in instances where a line was homozygous for a mutation or heterozygous for two mutations. |
| spellingShingle | Bicknell, D Rowan, A Bodmer, W Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors. |
| title | Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors. |
| title_full | Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors. |
| title_fullStr | Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors. |
| title_full_unstemmed | Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors. |
| title_short | Beta 2-microglobulin gene mutations: a study of established colorectal cell lines and fresh tumors. |
| title_sort | beta 2 microglobulin gene mutations a study of established colorectal cell lines and fresh tumors |
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