Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis

ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
Medicine
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.
Type of Medium:
Electronic Resource
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