Chromosome Rearrangement with No Apparent Gene Mutation in Familial Adenomatous Polyposis and Hepatocellular Neoplasia-Reference-Cited by-同舟云学术

Chromosome Rearrangement with No Apparent Gene Mutation in Familial Adenomatous Polyposis and Hepatocellular Neoplasia

Published:2002-01 Issue:1 Volume:5 Page:69-75
ISSN:1093-5266
Container-title:Pediatric and Developmental Pathology
language:en
Short-container-title:Pediatr Dev Pathol

Author:

de Chadarévian Jean-Pierre¹,Dunn Stephen²³,Malatack J. Jeffrey⁴⁵,Ganguly Arupa⁶,Blecker Uwe⁴,Punnett Hope H.¹

Affiliation:

1. Department of Pathology and Laboratory Medicine (Anatomical Pathology, Cytogenetics), MCP Hahnemann University School of Medicine and St. Christopher's Hospital for Children, Erie Avenue at Front Street, Philadelphia, PA 19134, USA

2. Department of Surgery, MCP Hahnemann University School of Medicine and St. Christopher's Hospital for Children, Erie Avenue at Front Street, Philadelphia, PA 19134, USA

3. Department of Surgery, Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803.

4. Department of Pediatrics (Gastroenterology and Nutrition, and Diagnostic Referral), MCP Hahnemann University School of Medicine and St. Christopher's Hospital for Children, Erie Avenue at Front Street, Philadelphia, PA 19134, USA

5. Department of Pediatrics, Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803.

6. Department of Genetics, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA

Abstract

We have identified a constitutional inversion in chromosome 5 associated with familial adenomatous polyposis in three generations of a Mexican family. Two of three siblings developed hepatic neoplasia in infancy. The gene truncation assay failed to demonstrate a truncated protein in the segment harboring the adenomatous polyposis coli (APC) genes. Polymerase chain reaction (PCR) amplification of APC gene coding exons and sequencing of PCR products did not reveal any significant mutation. The data suggest that in this family, the phenotype may be the result of a “position effect.”

Publisher

SAGE Publications

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1007/s10024-001-0121-3

Reference36 articles.

1. Localization of the gene for familial adenomatous polyposis on chromosome 5

2. The Gene for Familial Polyposis Coli Maps to the Long Arm of Chromosome 5

3. Close linkage of a highly polymorphic marker (D5S37) to familial adenomatous polyposis (FAP) and confirmation of FAP localization on chromosome 5q21-q22

4. Identification and characterization of the familial adenomatous polyposis coli gene

5. Identification of FAP Locus Genes from Chromosome 5q21

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