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At least 343 records · Page 19Linked to original sources
PubMed2003

The art and design of genetic screens: Escherichia coli.

This article summarizes the general principles of selections and screens in Escherichia coli. The focus is on the lac operon, owing to its inherent simplicity and versatility. Examples of different strategies for mutagenesis and mutant discovery are described. In particular, the usefulness and effectiveness of simple colour-based screens are illustrated. The power of lac genetics can be applied to almost any bacterial system with gene fusions that hook any gene of interest to lacZ, which is the structural gene that encodes beta-galactosidase. The diversity of biological processes that can be studied with lac genetics is remarkable and includes DNA metabolism, gene regulation and signal transduction, protein localization and folding, and even electron transport.

DNA Transposable Elements↗
PubMed1981

Immunization to prevent insulin-dependent diabetes mellitus? The economics of genetic screening and vaccination for diabetes.

There is increasing evidence that some cases of insulin-dependent diabetes mellitus are virally induced, and vaccination against this disease may become possible. We have prospectively examined the costs and benefits that would occur if a diabetes vaccine were developed, using a decision tree to model the alternative vaccination policies, including histocompatibility leukocyte antigen (HLA) screening. We found many cost and likelihood data in the literature, and when data on the potential vaccine had to be hypothesized, we used sensitivity analysis to check our estimates. We conclude that vaccinating all children at age 3 would be preferable to HLA screening and vaccinating only persons with a genetic predisposition to developing diabetes. A 50% effective vaccine would cut the diabetes incidence rate by 29% and save the U.S. population $30 million annually in direct costs of diabetes care. If indirect costs are considered these savings could amount to $4.2 billion over 60 years, discounted to present value at 5%, while preventing over 200,000 cases of insulin-dependent diabetes.

Adolescent↗
PubMedDate not supplied

Genetic screening: risk factors for breast cancer.

The field of cancer genetics is rapidly changing. Demand for information on genetic testing is increasing and persistent patient pressure is likely to result in increased NHS resource allocation. Cancer genetics clinics must change from small ad hoc research clinics to large throughput, patient-centred specialist services run jointly by doctors and clinical nurse specialists expert in cancer genetics and cancer medicine. We describe the development of a regional breast cancer genetics service in East Anglia based on the three-tier cancer care model outlined in the Calman report.

Breast Neoplasms↗
PubMed2003

A genetic screen for modifiers of the lats tumor suppressor gene identifies C-terminal Src kinase as a regulator of cell proliferation in Drosophila.

Disrupting mechanisms that control cell proliferation, cell size and apoptosis can cause changes in animal and tissue size and contribute to diseases such as cancer. The LATS family of serine/threonine kinases control tissue size by regulating cell proliferation and function as tumor suppressor genes in both Drosophila and mammals. In order to understand the role of lats in size regulation, we performed a genetic modifier screen in Drosophila to identify components of the lats signaling pathway. Mutations in the Drosophila homolog of C-terminal Src kinase (dcsk) were identified as dominant modifiers of both lats gain-of-function and loss-of-function phenotypes. Homozygous dcsk mutants have enlarged tissue phenotypes similar to lats and FACS and immunohistochemistry analysis of these tissues revealed that dcsk also regulates cell proliferation during development. Animals having mutations in both dcsk and lats display cell overproliferation phenotypes more severe than either mutant alone, demonstrating these genes function together in vivo to regulate cell numbers. Furthermore, homozygous dcsk phenotypes can be partially suppressed by overexpression of lats, indicating that lats is a downstream mediator of dcsk function in vivo. Finally, we show that dCSK phosphorylates LATS in vitro at a conserved C-terminal tyrosine residue, which is critical for normal LATS function in vivo. Taken together, these results demonstrate a role for dCSK in regulating cell numbers during development by inhibiting cell proliferation and suggest that lats is one of the mediators of the dcsk phenotype.

Animals↗
PubMed1998

[Germline mutations in the MEN1 gene: basis for predictive genetic screening and clinical management of multiple endocrine neoplasia type 1 (MEN1) families].

BACKGROUND AND OBJECTIVE: Mutations in the MEN 1 gene were recently discovered as the causative genetic defect of the autosomal dominantly inherited multiple endocrine neoplasia type 1. It was the aim of this study to evaluate the spectrum of MEN 1 mutations in our own series of patients in order to obtain a basis for predictive family screening. PATIENTS AND METHODS: Genomic DNA from peripheral blood of 21 patients with MEN 1, members of 14 non-related MEN 1 families, was examined for MEN 1 germ-line mutations by means of single-strand conformation variant analysis (SSCP) and direct DNA sequencing. In addition, blood from 20 asymptomatic family members of five families was tested for its predictive value. RESULTS: Eleven different heterozygotic germ-line mutations, among them eight frameshift, two missense and one nonsense mutations, were identified. In four of the 20 asymptomatic members from five MEN 1 families who had been tested after appropriate genetic counselling, the MEN 1 mutation characteristic for the particular family was found. Clinical screening programme in three mutation carriers revealed abnormal findings in all three: one primary hyperparathyroidism, one prolactinoma and one nonfunctioning pancreatic tumour each. The 16 family members without MEN 1 mutation were spared further unnecessary screening investigations. CONCLUSION: Although the function of the MEN 1 gene is not yet known, molecular genetic tests provide a basis for genetic counselling, predictive genetic screening and clinical management of MEN 1 families.

Adult↗
PubMed1978

Genetic screening.

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Ethics, Medical↗
PubMed1999

Genetic screening.

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Decision Making↗
PubMed2004

Functional genetic screen for genes involved in senescence: role of Tid1, a homologue of the Drosophila tumor suppressor l(2)tid, in senescence and cell survival.

We performed a genetic suppressor element screen to identify genes whose inhibition bypasses cellular senescence. A normalized library of fragmented cDNAs was used to select for elements that promote immortalization of rat embryo fibroblasts. Fragments isolated by the screen include those with homology to genes that function in intracellular signaling, cellular adhesion and contact, protein degradation, and apoptosis. They include mouse Tid1, a homologue of the Drosophila tumor suppressor gene l(2)tid, recently implicated in modulation of apoptosis as well as gamma interferon and NF-kappaB signaling. We show that GSE-Tid1 enhances immortalization by human papillomavirus E7 and simian virus 40 T antigen and cooperates with activated ras for transformation. Expression of Tid1 is upregulated upon cellular senescence in rat and mouse embryo fibroblasts and premature senescence of REF52 cells triggered by activated ras. In accordance with this, spontaneous immortalization of rat embryo fibroblasts is suppressed upon ectopic expression of Tid1. Modulation of endogenous Tid1 activity by GSE-Tid1 or Tid1-specific RNA interference alleviates the suppression of tumor necrosis factor alpha-induced NF-kappaB activity by Tid1. We also show that NF-kappaB sequence-specific binding is strongly downregulated upon senescence in rat embryo fibroblasts. We therefore propose that Tid1 contributes to senescence by acting as a repressor of NF-kappaB signaling.

Animals↗
PubMed1994

Complete androgen insensitivity due to a splice-site mutation in the androgen receptor gene and genetic screening with single-stranded conformation polymorphism.

OBJECTIVE: To characterize the genetic defect in a family with complete androgen insensitivity syndrome and to determine whether single-stranded conformation polymorphism (SSCP) can be used to detect subtle mutations in the androgen receptor (AR) gene. DESIGN: Amplification, subcloning where appropriate, and sequencing of the AR gene in members of the affected family and to use SSCP to differentiate rapidly mutant from normal alleles. SETTING: Reproductive endocrinology clinic and laboratory in a university hospital. PATIENTS: A family of which two sisters (46XY) have complete androgen insensitivity syndrome. RESULTS: A novel single base (G --> A) mutation in the exon G-intron 7 junction of the AR gene caused an abnormal donor splice site leading to complete androgen insensitivity in both affected siblings. Their mother was demonstrated to be the heterozygous carrier of this mutation while the other two males in the family carried the normal allele. Single-stranded conformation polymorphism proved useful for defining the normal, mutant, and heterozygous carrier status of each member of this family. CONCLUSIONS: This new mutation of the human AR gene illustrates the importance of exon G in receptor function. Single-stranded conformation polymorphism is a simple and rapid screening technique that can be used to detect unknown subtle mutations in the AR gene.

Adolescent↗
PubMed2004

Is genetic screening for hemochromatosis worthwhile?

Hereditary hemochromatosis is an iron overload disorder and is the most common recessive disease in Caucasians. About 80% of hemochromatosis patients are homozygous for the C282Y mutation in the HFE gene. Since iron accumulation can be prevented by phlebotomy, there is increasing interest in screening populations for hemochromatosis. Hemochromatosis is a disease that meets all the criteria for screening as set by the World Health Organization (WHO) or the US preventive services task force criteria for a screening program. However, there is no consensus on the value of a screening program for hemochromatosis. Moreover, there is no agreement on whether this screening should be based on the phenotype i.e. biochemical levels of serum iron parameters or on the genotype i.e. based on the presence of mutations in the HFE gene. Other important concerns are the lack of important data in evaluating screening as well as the psychosocial impact of a screening program. The present review analyses the current situation from a genetic-epidemiological perspective. We conclude that general population screening may be helpful to identify high-risk groups or individuals in the early stage of the disease so that treatment can be started. We suggest a two-phase screening program based on the first instance on serum iron levels and then a genetic test to only those with elevated serum iron parameters.

Female↗