Mspl RFLP at the D5S122 locus tightly linked to APC

Breukel, Cor; Tops, Carli M.J.; Ras, Experimental Biophysics; Khan, P. Meera

doi:10.1093/nar/19.3.685-a

Cited by 11 publications

(4 citation statements)

References 1 publication

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“…JWZS (DSS318) is another CArepeat polymorphism located distal to MCC (Wijnen et al, 1991). CB83 (D5S122) is an MspI restriction fragment length polymorphism (RFLP; Breukel et al, 1991) located approximately 3.5 Mb proximal to APC (Ward et al, 1993).…”

Section: Polymorphic Marker Analysismentioning

confidence: 99%

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree

Luijt

Tops

Khan

et al. 1995

Genes Chromosomes & Cancer

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Familial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer caused by germline mutations in the adenomatous polyposis coli (APC) gene located on chromosome segment 5q21-q22. We detected a germline rearrangement of the APC gene in a Dutch FAP family by screening genomic DNA samples with APC cDNA probes. Subsequent molecular and cytogenetic studies revealed a constitutional reciprocal translocation t(5;10)(q22;q25) that resulted in the disruption of the APC gene. Southern blot and polymorphic marker analysis indicated that part of the APC gene had been deleted. Analysis of the APC protein product indicated that the translocation breakpoint did not lead to the formation of a detectable truncated APC protein but apparently resulted in a null allele. Evaluation of the clinical phenotypes in the patients suggested that they exhibited features of an unusual form of FAP characterized by a slightly delayed age of onset of colorectal cancer and a reduced number of colorectal polyps. The latter were mainly sessile and were located predominantly in the proximal colon. To our knowledge, this is the first description of FAP caused by a reciprocal translocation disrupting the APC gene.

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Section: Polymorphic Marker Analysismentioning

confidence: 99%

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree

Luijt

Tops

Khan

et al. 1995

Genes Chromosomes & Cancer

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show abstract

“…Significant linkage (LOD scores Ͼ 3) with the APC locus was demonstrated for all the markers used in this study [17][18][19][20][21][22]. Thirty-three family members of six families (FAMs 1, 2, 3, 4, 5, 8) (Table 1) could be evaluated by linkage analysis.…”

Section: Molecular Biologic Diagnosismentioning

confidence: 85%

“…Genomic DNA was isolated from peripheral blood leukocytes following proteinase K digestion and phenol/chloroform extraction. Polymerase chain reaction (PCR) amplifications were carried out with oligonucleotide primers described elsewhere [15][16][17][18][19][20][21][22]. DNA extraction from stored, formalin-fixed, and paraffinembedded colonic tissue was performed by methods reported earlier [23].…”

Section: Dna Analysesmentioning

confidence: 99%

“…In addition to the intragenic markers, four highly polymorphic flanking microsatellite markers surrounding the APC gene were used in each family: CB 26 (D5S299) [19], CB83 (D5S122) [20], YN5.64 (CA)n (D5S82) [21] proximal to the APC gene, and LNS-CA [22] distal to the APC gene. PCR amplification and electrophoretic separation on polyacrylamide gels followed by ethidium bromide staining were performed as described elsewhere [16].…”

Section: Probes and Genotype Analysesmentioning

confidence: 99%

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Screening by Genomic Linkage Studies and Mutation Analysis of Hereditary Adenomatous Polyposis Coli: Usefulness for Clinical Practice

et al. 1996

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A heterogeneous group of patients suffering from adenomatous polyposis coli (APC) were evaluated by clinical and genetic investigations for the first time in Austria. The patients belonged to eight unrelated APC families. In six families several family members were affected with APC, and linkage analysis with highly informative markers was used to estimate the risk of single individuals in these families to develop APC. All index patients were also tested for the most frequent mutation in the APC gene (mutation cluster region, exon 15). Clinical investigations included ophthalmologic tests for congenital hypertrophy of retinal pigment epithelium and colonoscopy. According to DNA analysis, 5 of 19 at-risk individuals had to be considered to be at high risk of having inherited the disease. Four of them underwent proctocolectomy, one patient at risk is under colonoscopic surveillance. The predictive value of indirect genotype analyses reached 83.3%; direct mutation analyses allowed risk estimation in 50% of cases. Ophthalmologic investigation was informative in 75% of the families. Direct and indirect genotyping using a panel of highly polymorphic, closely linked microsatellite markers is a valuable, rapid, reliable method for establishing a presymptomatic diagnosis of APC, especially in families in which more than one affected individual is available for analysis. With regard to the onset of APC and extracolonic manifestations, the variability of APC demands clinical investigations in addition to the molecular tests for all patients and their first-degree relatives.

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Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis

Tops¹,

Vasen²,

Henegouwen³

et al. 1992

Am. J. Med. Genet.

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Turcot syndrome (TS) is a rare genetic disease in which brain tumors occur in association with colonic polyposis. Since Turcot's original description in 1959, there have been disagreements about the mode of inheritance as well as the clinical expression of this condition. Some investigators maintain that TS is a phenotypic variant of the autosomal dominant familial adenomatous polyposis (FAP), while others observe that there are clinical differences between TS and FAP, and that the pattern of inheritance of TS is autosomal recessive. The distribution of persons with colonic lesions in a family with a patient of colonic polyposis and a brain tumor, described in this report, favored the recessive hypothesis. In this family, the involvement of the FAP gene on chromosome 5q21-q22 could be excluded by a linkage study using a panel of FAP-linked DNA markers. This finding, which indicates the occurrence of another polyposis gene elsewhere in the genome, will have consequences for the presymptomatic diagnosis of FAP by linked DNA markers. We conclude that TS is a distinct clinical-genetical entity with the triad of atypical polyposis coli, CNS tumors, and a recessive mode of inheritance.

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Mspl RFLP at the D5S122 locus tightly linked to APC

Cited by 11 publications

References 1 publication

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree

Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree

Screening by Genomic Linkage Studies and Mutation Analysis of Hereditary Adenomatous Polyposis Coli: Usefulness for Clinical Practice

Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis

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