Abstract
A functional screen for nonsense and frameshift mutations has been devised that allows genes of interest to be scanned in segments. This assay is based on the cloning of these segments in-frame with a colorimetric marker gene (lacZ) followed by screening for the level of functional activity from the marker polypeptide (β-galactosidase). Individuals at risk for any one of a number of genetic diseases, in particular familial adenomatous polyposis coli (APC), can be quickly screened for chain-terminating mutations introduced by stops and frameshifts. At present, scanning of the APC gene for mutation requires significant effort because it is a large gene and most APC mutations are unique. Therefore, this assay offers a powerful option for the diagnosis of this and other genetic diseases, as well as great potential for the development of a similar rapid screen to detect APC mutations in colorectal adenomas and carcinomas.
| Original language | English |
|---|---|
| Pages (from-to) | 5581-5584 |
| Number of pages | 4 |
| Journal | Cancer Research |
| Volume | 53 |
| Issue number | 23 |
| Publication status | Published - Dec 1 1993 |
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ASJC Scopus subject areas
- Cancer Research
- Oncology
Cite this
A rapid screening method to detect nonsense and frameshift mutations : Identification of disease-causing APC alleles. / Varesco, Liliana; Groden, Joanna; Spirio, Lisa; Robertson, Margaret; Weiss, Robert; Gismondi, Viviana; Ferrara, G. B.; White, Ray.
In: Cancer Research, Vol. 53, No. 23, 01.12.1993, p. 5581-5584.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A rapid screening method to detect nonsense and frameshift mutations
T2 - Identification of disease-causing APC alleles
AU - Varesco, Liliana
AU - Groden, Joanna
AU - Spirio, Lisa
AU - Robertson, Margaret
AU - Weiss, Robert
AU - Gismondi, Viviana
AU - Ferrara, G. B.
AU - White, Ray
PY - 1993/12/1
Y1 - 1993/12/1
N2 - A functional screen for nonsense and frameshift mutations has been devised that allows genes of interest to be scanned in segments. This assay is based on the cloning of these segments in-frame with a colorimetric marker gene (lacZ) followed by screening for the level of functional activity from the marker polypeptide (β-galactosidase). Individuals at risk for any one of a number of genetic diseases, in particular familial adenomatous polyposis coli (APC), can be quickly screened for chain-terminating mutations introduced by stops and frameshifts. At present, scanning of the APC gene for mutation requires significant effort because it is a large gene and most APC mutations are unique. Therefore, this assay offers a powerful option for the diagnosis of this and other genetic diseases, as well as great potential for the development of a similar rapid screen to detect APC mutations in colorectal adenomas and carcinomas.
AB - A functional screen for nonsense and frameshift mutations has been devised that allows genes of interest to be scanned in segments. This assay is based on the cloning of these segments in-frame with a colorimetric marker gene (lacZ) followed by screening for the level of functional activity from the marker polypeptide (β-galactosidase). Individuals at risk for any one of a number of genetic diseases, in particular familial adenomatous polyposis coli (APC), can be quickly screened for chain-terminating mutations introduced by stops and frameshifts. At present, scanning of the APC gene for mutation requires significant effort because it is a large gene and most APC mutations are unique. Therefore, this assay offers a powerful option for the diagnosis of this and other genetic diseases, as well as great potential for the development of a similar rapid screen to detect APC mutations in colorectal adenomas and carcinomas.
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UR - http://www.scopus.com/inward/citedby.url?scp=0027422048&partnerID=8YFLogxK
M3 - Article
VL - 53
SP - 5581
EP - 5584
JO - Journal of Cancer Research
JF - Journal of Cancer Research
SN - 0008-5472
IS - 23
ER -