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Title: DNA Probe Pooling for Rapid Delineation of Chromosomal Breakpoints

Abstract

Structural chromosome aberrations are hallmarks of many human genetic diseases. The precise mapping of translocation breakpoints in tumors is important for identification of genes with altered levels of expression, prediction of tumor progression, therapy response, or length of disease-free survival as well as the preparation of probes for detection of tumor cells in peripheral blood. Similarly, in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) for carriers of balanced, reciprocal translocations benefit from accurate breakpoint maps in the preparation of patient-specific DNA probes followed by a selection of normal or balanced oocytes or embryos. We expedited the process of breakpoint mapping and preparation of case-specific probes by utilizing physically mapped bacterial artificial chromosome (BAC) clones. Historically, breakpoint mapping is based on the definition of the smallest interval between proximal and distal probes. Thus, many of the DNA probes prepared for multi-clone and multi-color mapping experiments do not generate additional information. Our pooling protocol described here with examples from thyroid cancer research and PGD accelerates the delineation of translocation breakpoints without sacrificing resolution. The turnaround time from clone selection to mapping results using tumor or IVF patient samples can be as short as three to four days.

Authors:
; ; ; ; ; ; ; ;
Publication Date:
Research Org.:
Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States)
Sponsoring Org.:
Life Sciences Division
OSTI Identifier:
960431
Report Number(s):
LBNL-1942E
TRN: US200923%%496
DOE Contract Number:  
DE-AC02-05CH11231
Resource Type:
Technical Report
Country of Publication:
United States
Language:
English
Subject:
60; BLOOD; CHROMOSOMAL ABERRATIONS; CHROMOSOMES; DETECTION; DIAGNOSIS; DISEASES; DNA; EMBRYOS; FERTILIZATION; GENES; GENETICS; IN VITRO; NEOPLASMS; OOCYTES; PATIENTS; PROBES; THERAPY; THYROID; TRANSLOCATION; TUMOR CELLS

Citation Formats

Lu, Chun-Mei, Kwan, Johnson, Baumgartner, Adolf, Weier, Jingly F, Wang, Mei, Escudero, Tomas, Munne', Santiago, Zitzelsberger, Horst F, and Weier, Heinz-Ulrich. DNA Probe Pooling for Rapid Delineation of Chromosomal Breakpoints. United States: N. p., 2009. Web. doi:10.2172/960431.
Lu, Chun-Mei, Kwan, Johnson, Baumgartner, Adolf, Weier, Jingly F, Wang, Mei, Escudero, Tomas, Munne', Santiago, Zitzelsberger, Horst F, & Weier, Heinz-Ulrich. DNA Probe Pooling for Rapid Delineation of Chromosomal Breakpoints. United States. https://doi.org/10.2172/960431
Lu, Chun-Mei, Kwan, Johnson, Baumgartner, Adolf, Weier, Jingly F, Wang, Mei, Escudero, Tomas, Munne', Santiago, Zitzelsberger, Horst F, and Weier, Heinz-Ulrich. 2009. "DNA Probe Pooling for Rapid Delineation of Chromosomal Breakpoints". United States. https://doi.org/10.2172/960431. https://www.osti.gov/servlets/purl/960431.
@article{osti_960431,
title = {DNA Probe Pooling for Rapid Delineation of Chromosomal Breakpoints},
author = {Lu, Chun-Mei and Kwan, Johnson and Baumgartner, Adolf and Weier, Jingly F and Wang, Mei and Escudero, Tomas and Munne', Santiago and Zitzelsberger, Horst F and Weier, Heinz-Ulrich},
abstractNote = {Structural chromosome aberrations are hallmarks of many human genetic diseases. The precise mapping of translocation breakpoints in tumors is important for identification of genes with altered levels of expression, prediction of tumor progression, therapy response, or length of disease-free survival as well as the preparation of probes for detection of tumor cells in peripheral blood. Similarly, in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) for carriers of balanced, reciprocal translocations benefit from accurate breakpoint maps in the preparation of patient-specific DNA probes followed by a selection of normal or balanced oocytes or embryos. We expedited the process of breakpoint mapping and preparation of case-specific probes by utilizing physically mapped bacterial artificial chromosome (BAC) clones. Historically, breakpoint mapping is based on the definition of the smallest interval between proximal and distal probes. Thus, many of the DNA probes prepared for multi-clone and multi-color mapping experiments do not generate additional information. Our pooling protocol described here with examples from thyroid cancer research and PGD accelerates the delineation of translocation breakpoints without sacrificing resolution. The turnaround time from clone selection to mapping results using tumor or IVF patient samples can be as short as three to four days.},
doi = {10.2172/960431},
url = {https://www.osti.gov/biblio/960431}, journal = {},
number = ,
volume = ,
place = {United States},
year = {Fri Jan 30 00:00:00 EST 2009},
month = {Fri Jan 30 00:00:00 EST 2009}
}