Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis
Dobbie, Zuzana ; Heinimann, Karl ; Bishop, D. Tim ; Müller, Hansjakob ; Scott, R. J.
Springer
Published 1997
Springer
Published 1997
| ISSN: |
1432-1203
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Biology
Medicine
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| Notes: |
Abstract Phenotypic variability based on nonallelic heterogeneity is a characteristic feature of the dominantly inherited disease, familial adenomatous polyposis (FAP). A modifying locus, called Mom-1, which strongly influences disease expression has been mapped in the mouse model of FAP to the region of murine chromosome 4, which has synteny to human chromosome 1p35-36. In the present study, this chromosomal region was investigated by using 14 microsatellite markers within a large FAP kindred in which patients harbor the same germ-line mutation but show markedly different disease characteristics. The linkage program MLINK was used to determine whether any correlation exists between these markers and the development of extracolonic symptoms in polyposis coli patients. Depending on the mode of inheritance of the affected locus, a maximum lod score was observed for markers D1S211 and D1S197, reaching 2.08 and 1.77, respectively. The observed values obtained within one large FAP family are supportive of a phenotype-modifying locus within this chromosomal region.
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| Type of Medium: |
Electronic Resource
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| URL: |
| _version_ | 1798295625698115584 |
|---|---|
| autor | Dobbie, Zuzana Heinimann, Karl Bishop, D. Tim Müller, Hansjakob Scott, R. J. |
| autorsonst | Dobbie, Zuzana Heinimann, Karl Bishop, D. Tim Müller, Hansjakob Scott, R. J. |
| book_url | http://dx.doi.org/10.1007/s004390050423 |
| datenlieferant | nat_lic_papers |
| hauptsatz | hsatz_simple |
| identnr | NLM205652212 |
| issn | 1432-1203 |
| journal_name | Human genetics 〈Berlin〉 |
| materialart | 1 |
| notes | Abstract Phenotypic variability based on nonallelic heterogeneity is a characteristic feature of the dominantly inherited disease, familial adenomatous polyposis (FAP). A modifying locus, called Mom-1, which strongly influences disease expression has been mapped in the mouse model of FAP to the region of murine chromosome 4, which has synteny to human chromosome 1p35-36. In the present study, this chromosomal region was investigated by using 14 microsatellite markers within a large FAP kindred in which patients harbor the same germ-line mutation but show markedly different disease characteristics. The linkage program MLINK was used to determine whether any correlation exists between these markers and the development of extracolonic symptoms in polyposis coli patients. Depending on the mode of inheritance of the affected locus, a maximum lod score was observed for markers D1S211 and D1S197, reaching 2.08 and 1.77, respectively. The observed values obtained within one large FAP family are supportive of a phenotype-modifying locus within this chromosomal region. |
| package_name | Springer |
| publikationsjahr_anzeige | 1997 |
| publikationsjahr_facette | 1997 |
| publikationsjahr_intervall | 8004:1995-1999 |
| publikationsjahr_sort | 1997 |
| publisher | Springer |
| reference | 99 (1997), S. 653-657 |
| search_space | articles |
| shingle_author_1 | Dobbie, Zuzana Heinimann, Karl Bishop, D. Tim Müller, Hansjakob Scott, R. J. |
| shingle_author_2 | Dobbie, Zuzana Heinimann, Karl Bishop, D. Tim Müller, Hansjakob Scott, R. J. |
| shingle_author_3 | Dobbie, Zuzana Heinimann, Karl Bishop, D. Tim Müller, Hansjakob Scott, R. J. |
| shingle_author_4 | Dobbie, Zuzana Heinimann, Karl Bishop, D. Tim Müller, Hansjakob Scott, R. J. |
| shingle_catch_all_1 | Dobbie, Zuzana Heinimann, Karl Bishop, D. Tim Müller, Hansjakob Scott, R. J. Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis Abstract Phenotypic variability based on nonallelic heterogeneity is a characteristic feature of the dominantly inherited disease, familial adenomatous polyposis (FAP). A modifying locus, called Mom-1, which strongly influences disease expression has been mapped in the mouse model of FAP to the region of murine chromosome 4, which has synteny to human chromosome 1p35-36. In the present study, this chromosomal region was investigated by using 14 microsatellite markers within a large FAP kindred in which patients harbor the same germ-line mutation but show markedly different disease characteristics. The linkage program MLINK was used to determine whether any correlation exists between these markers and the development of extracolonic symptoms in polyposis coli patients. Depending on the mode of inheritance of the affected locus, a maximum lod score was observed for markers D1S211 and D1S197, reaching 2.08 and 1.77, respectively. The observed values obtained within one large FAP family are supportive of a phenotype-modifying locus within this chromosomal region. 1432-1203 14321203 Springer |
| shingle_catch_all_2 | Dobbie, Zuzana Heinimann, Karl Bishop, D. Tim Müller, Hansjakob Scott, R. J. Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis Abstract Phenotypic variability based on nonallelic heterogeneity is a characteristic feature of the dominantly inherited disease, familial adenomatous polyposis (FAP). A modifying locus, called Mom-1, which strongly influences disease expression has been mapped in the mouse model of FAP to the region of murine chromosome 4, which has synteny to human chromosome 1p35-36. In the present study, this chromosomal region was investigated by using 14 microsatellite markers within a large FAP kindred in which patients harbor the same germ-line mutation but show markedly different disease characteristics. The linkage program MLINK was used to determine whether any correlation exists between these markers and the development of extracolonic symptoms in polyposis coli patients. Depending on the mode of inheritance of the affected locus, a maximum lod score was observed for markers D1S211 and D1S197, reaching 2.08 and 1.77, respectively. The observed values obtained within one large FAP family are supportive of a phenotype-modifying locus within this chromosomal region. 1432-1203 14321203 Springer |
| shingle_catch_all_3 | Dobbie, Zuzana Heinimann, Karl Bishop, D. Tim Müller, Hansjakob Scott, R. J. Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis Abstract Phenotypic variability based on nonallelic heterogeneity is a characteristic feature of the dominantly inherited disease, familial adenomatous polyposis (FAP). A modifying locus, called Mom-1, which strongly influences disease expression has been mapped in the mouse model of FAP to the region of murine chromosome 4, which has synteny to human chromosome 1p35-36. In the present study, this chromosomal region was investigated by using 14 microsatellite markers within a large FAP kindred in which patients harbor the same germ-line mutation but show markedly different disease characteristics. The linkage program MLINK was used to determine whether any correlation exists between these markers and the development of extracolonic symptoms in polyposis coli patients. Depending on the mode of inheritance of the affected locus, a maximum lod score was observed for markers D1S211 and D1S197, reaching 2.08 and 1.77, respectively. The observed values obtained within one large FAP family are supportive of a phenotype-modifying locus within this chromosomal region. 1432-1203 14321203 Springer |
| shingle_catch_all_4 | Dobbie, Zuzana Heinimann, Karl Bishop, D. Tim Müller, Hansjakob Scott, R. J. Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis Abstract Phenotypic variability based on nonallelic heterogeneity is a characteristic feature of the dominantly inherited disease, familial adenomatous polyposis (FAP). A modifying locus, called Mom-1, which strongly influences disease expression has been mapped in the mouse model of FAP to the region of murine chromosome 4, which has synteny to human chromosome 1p35-36. In the present study, this chromosomal region was investigated by using 14 microsatellite markers within a large FAP kindred in which patients harbor the same germ-line mutation but show markedly different disease characteristics. The linkage program MLINK was used to determine whether any correlation exists between these markers and the development of extracolonic symptoms in polyposis coli patients. Depending on the mode of inheritance of the affected locus, a maximum lod score was observed for markers D1S211 and D1S197, reaching 2.08 and 1.77, respectively. The observed values obtained within one large FAP family are supportive of a phenotype-modifying locus within this chromosomal region. 1432-1203 14321203 Springer |
| shingle_title_1 | Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis |
| shingle_title_2 | Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis |
| shingle_title_3 | Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis |
| shingle_title_4 | Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis |
| sigel_instance_filter | dkfz geomar wilbert ipn albert fhp |
| source_archive | Springer Online Journal Archives 1860-2000 |
| timestamp | 2024-05-06T09:39:11.443Z |
| titel | Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis |
| titel_suche | Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis |
| topic | W WW-YZ |
| uid | nat_lic_papers_NLM205652212 |