Frequent germline deletion polymorphism of chromosomal region 8p12-p21 identified as a recurrent homozygous deletion in human tumors

Byungwoo Ryu, Jason Song, Taylor Sohn, Ralph H. Hruban, Scott E. Kern

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

A number of carcinomas show high frequency of loss of heterozygosity (LOH) at chromosome 8p, suggesting that putative tumor suppressor genes are present in this region. While searching for homozygous deletions in a panel of pancreatic and biliary tumors, we discovered a homozygous deletion at the microsatellite AFMa224wh5 in chromosome region 8p12-p21. We applied a six-step algorithm comprising germline analysis, breakpoint sequencing, population screening, on-line gene mapping, allelic discrimination of tumor-associated LOH, and family history analysis. The results indicated that the deletion was likely due to a normal 102-bp deletion polymorphism present in nearly 10% of the study population, not likely to involve a recessive cancer-associated gene. Researchers need to be aware that germline insertion/deletion polymorphisms can affect the results of positional cloning efforts in human neoplasms. This problem would be accentuated in studies of cell lines where a paired sample of constitutional DNA is often unavailable.

Original languageEnglish (US)
Pages (from-to)108-112
Number of pages5
JournalGenomics
Volume72
Issue number1
DOIs
StatePublished - Feb 15 2001
Externally publishedYes

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Loss of Heterozygosity
Chromosomes
Recessive Genes
Neoplasms
Chromosome Mapping
Neoplasm Genes
Tumor Suppressor Genes
Microsatellite Repeats
Population
Organism Cloning
Research Personnel
Carcinoma
Cell Line
DNA

ASJC Scopus subject areas

  • Genetics

Cite this

Frequent germline deletion polymorphism of chromosomal region 8p12-p21 identified as a recurrent homozygous deletion in human tumors. / Ryu, Byungwoo; Song, Jason; Sohn, Taylor; Hruban, Ralph H.; Kern, Scott E.

In: Genomics, Vol. 72, No. 1, 15.02.2001, p. 108-112.

Research output: Contribution to journalArticle

Ryu, Byungwoo ; Song, Jason ; Sohn, Taylor ; Hruban, Ralph H. ; Kern, Scott E. / Frequent germline deletion polymorphism of chromosomal region 8p12-p21 identified as a recurrent homozygous deletion in human tumors. In: Genomics. 2001 ; Vol. 72, No. 1. pp. 108-112.
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