SEARCH · PubMed Health

Results for “Genetic Screen”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 127 records · Page 7Linked to original sources

PubMed2000

[Genetic screening for familial hypercholesterolemia in 1992-1997: primarily younger patients in the care of family physicians].

OBJECTIVE: To estimate the proportion of patients with familial hypercholesterolaemia (FH) who were identified with hypercholesterolaemia in general practice prior to screening by means of pedigree research and DNA analysis by the National Foundation for the Identification of Familial Hypercholesterolemia (StOEH). DESIGN: Retrospective. METHOD: General practice files of FH patients, diagnosed through genetic screening by the StOEH in 1992-1997 whose general practitioner's (GP's) practice in Amsterdam, Haarlem or Alkmaar, were studied for cholesterol and FH related information documented in the period prior to the screening. RESULTS: Out of the 121 persons selected 80 agreed to the study; one GP refused to co-operate. There was no difference between respondents and non respondents with regard to age, sex or domicile of the GP. In 48 of 79 (61%) general practice files studied, cholesterol measurements were reported prior to screening; 39 patients (49%) had hypercholesterolaemia and 29 (37%) were being treated with cholesterol lowering drugs. Mean age of the FH patients who had no record of their cholesterol levels was 25.1 years (SD: 17.0) at the time of screening, 22 years younger than the mean age of FH patients who did have cholesterol levels on record prior to screening (47.1 (SD: 18.4); p < 0.0001). CONCLUSION: Of the FH patients identified through family based genetic screening especially the younger FH patients are newly brought to the attention of their GP.

Adult↗

PubMed2006

Identification of plant stress-responsive determinants in Arabidopsis by large-scale forward genetic screens.

All plants sense and adapt to adverse environmental conditions, however, crop plants exhibit less genetic diversity for abiotic stress tolerance than do wild relatives indicating that a genetic basis exists for stress adaptability. Model plant genetic systems and the plethora of molecular genetic resources that are currently available are greatly enhancing our ability to identify abiotic stress-responsive genetic determinants. Forward genetic screens of T-DNA mutagenized Arabidopsis thaliana populations in the genetic background of ecotypes C24(RD29a-LUC) and Col-0 gl1 sos3-1 were carried out to begin an exhaustive search for such determinants. The C24(RD29a-LUC) screens identified mutants with altered salt/osmotic stress sensitivity or mutants with altered expression of the salt/osmotic/cold/ABA-responsive RD29a gene. Also, mutations that alter the NaCl sensitivity of sos3-1 were screened for potential genetic suppressors or enhancers of salt-stress responses mediated by SOS3. In total, more than 250 000 independent insertion lines were screened and greater than 200 individual mutants that exhibited altered stress/ABA responses were recovered. Although several of these mutants have been reported, most have not yet been studied in detail. Notable examples include novel alleles of SOS1 and mutations to genes encoding the STT3a subunit of the oligosaccharyltransferase, syntaxin, RNA polymerase II CTD phosphatases, transcription factors, ABA biosynthetic enzyme, Na+ transporter HKT1, and SUMO E3 ligase. The stress-specific phenotypes of mutations to genes that are involved in many basic cellular functions provide indication of the wide range of control mechanisms in cellular homeostasis that are involved in stress adaptation.

Alleles↗

PubMedDate not supplied

Ethical dimensions in genetic screening: a look into the future.

The ethical dimensions of four areas of genetic screening, prenatal screening and diagnosis, newborn screening, carrier detection, and presymptomatic genetic testing, are discussed. Ethical analysis of genetic technologies focuses on the goals, values, and professional obligations that underlie the development and use of these technologies. We live in a complex, diverse society, in which there are multiple, often contradictory, values and belief systems that influence public and personal views about the morality of genetic technologies. Some of these prevailing views are presented to highlight the ethical issues nurses may encounter in reproductive health care, an area in which genetic information and services are increasingly important aspects of care.

Civil Rights↗

PubMed1997

Molecular cloning of a cDNA encoding the nucleosome core histone H3 from Dictyostelium discoideum by genetic screening in yeast.

The one-hybrid method for genetic screening in yeast was used to search a Dictyostelium discoideum cDNA library for DNA-binding proteins that interact with the C-module of the Dictyostelium repetitive element. The C-module was formerly shown to contain two high affinity, sequence-specific binding sites for a nuclear protein factor of unknown function (CMBF). The bait DNA sequence was bound in vivo by a cDNA-encoded protein whose derived amino acid sequence showed high homology to nucleosome core histone H3, but not to partially available CMBF sequences. The D. discoideum histone H3 homolog is encoded by a single gene and shows significant sequence variation at the amino terminus of the protein, including a triple-serine insertion not found in any other histone H3.

Amino Acid Sequence↗

PubMedDate not supplied

Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis.

HFE-associated hereditary haemochromatosis is a recessive, iron-overload disorder that affects about one in 200 north Europeans and that can be easily prevented. However, genetic screening for this disease is controversial, and so we assessed whether such screening was suitable for communities. Cheek-brush screening for the Cys282Tyr HFE mutation was offered to individuals in the workplace. Outcomes were assessed by questionnaires before and after testing. 11,307 individuals were screened. We recorded no increase in anxiety in individuals who were homozygous for the Cys282Tyr mutation or non-homozygous. Self-reported tiredness before testing was significantly higher in homozygous participants than in non-homozygous participants (chi2 test, p=0.029). Of the 47 homozygous individuals identified, 46 have taken steps to treat or prevent iron accumulation. Population genetic screening for HFE-associated hereditary haemochromatosis can be practicable and acceptable.

Adult↗

PubMed2004

A genetic screen for the identification of thiamin metabolic genes.

A genetic screen was developed for the identification of genes related to thiamin biosynthesis and degradation. Genes conferring resistance to bacimethrin or 4-amino-2-trifluoromethyl-5-hydroxymethylpyrimidine were selected from Escherichia coli and Bacillus subtilis genomic libraries. Hits from the selection included the known thiamin biosynthetic genes thiC, thiE, and dxs as well as five genes of previously unknown function (E. coli yjjX, yajO, ymfB, and cof and B. subtilis yveN). The gene products YmfB and Cof catalyze the hydrolysis of 4-amino-2-methyl-5-hydroxymethylpyrimidine pyrophosphate to 4-amino-2-methyl-5-hydroxymethylpyrimidine phosphate. YmfB also converts thiamin pyrophosphate into thiamin phosphate.

Bacillus subtilis↗

PubMedDate not supplied

Genetic screening of targeted subpopulations: the role of communal discourse in evaluating sociocultural implications.

Targeting socially identifiable subpopulations for genetic screening entails the risk of stigmatizing them. The potential for such harm should be considered before programs are initiated. There is an emerging consensus that targeted subpopulations should be actively involved in evaluating these risks. A process of communal discourse engages the community in discussions that reflect both public and private sociocultural contexts in which individual decisions about screening will be made. This allows the subpopulation to address the collective implications of testing in a culturally appropriate way. Communal discourse was used to evaluate the collective implications of genetic testing in two Native American communities. We found that private social units were more influential than public units in reaching communal consensus, that local sociocultural issues were of more concern than were general issues such as employment and insurance discrimination, and that heterogeneity within a subpopulation may be just as significant a consideration in designing a targeted screening program as diversity between subpopulations. Heterogeneity is constructed by using a dichotomy between community-specific and biomedical health representations and practices. How genetic screening is socially constructed using a community's existing dichotomy may be central to its success.

Attitude to Health↗

PubMedDate not supplied

Nurses' views of longitudinal genetic screening of and research on children.

There is a lack of empirical data exploring ethical issues of genetic screening and longitudinal research involving children. Therefore, this pilot interview study explored the perceptions of nurses and midwives in relation to their involvement in an ongoing genetic preventive screening process involving children - the All Babies in South-east Sweden (ABIS) study (n=17,005). Data were collected through semistructured interviews with 10 nurses involved in all information and sampling procedures. While providing the preliminary nature of this study, it supports the idea of the importance of further research, both from a nursing professional perspective and from other parties involved in clinical research. The findings made in this study suggest that for such studies it is vital that nurses and midwives are fully informed about aims, methods, and potential intervention/prevention since in many cases they have a central role in several areas of screening and clinical longitudinal research involving children, e.g. information to potential research participants, obtaining informed consent, and data collection. With a thorough understanding of the research, including both basic aims and methods as well as potential future prevention aims, the nursing staff involved will be better placed to help participants make an informed choice and to provide additional information to the participants. Further research may be needed that aims to develop effective methods in preparing data collectors. It is also suggested that the design of the information process, and especially in longitudinal research involving young children, is of utmost importance before such studies are commenced.

Attitude of Health Personnel↗

PubMed2006

A novel forward genetic screen for identifying mutations affecting larval neuronal dendrite development in Drosophila melanogaster.

Vertebrate and invertebrate dendrites are information-processing compartments that can be found on both central and peripheral neurons. Elucidating the molecular underpinnings of information processing in the nervous system ultimately requires an understanding of the genetic pathways that regulate dendrite formation and maintenance. Despite the importance of dendrite development, few forward genetic approaches have been used to analyze the latest stages of dendrite development, including the formation of F-actin-rich dendritic filopodia or dendritic spines. We developed a forward genetic screen utilizing transgenic Drosophila second instar larvae expressing an actin, green fluorescent protein (GFP) fusion protein (actin::GFP) in subsets of sensory neurons. Utilizing this fluorescent transgenic reporter, we conducted a forward genetic screen of >4000 mutagenized chromosomes bearing lethal mutations that affected multiple aspects of larval dendrite development. We isolated 13 mutations on the X and second chromosomes composing 11 complementation groups affecting dendrite outgrowth/branching, dendritic filopodia formation, or actin::GFP localization within dendrites in vivo. In a fortuitous observation, we observed that the structure of dendritic arborization (da) neuron dendritic filopodia changes in response to a changing environment.

Animals↗

PubMed2003

Can the four principles help in genetic screening decision-making?

Although principles, as a framework to resolving moral dilemmas are still debated and seem to be in a philosophical quagmire, there are strong arguments that by specification one can resolve case-specific dilemmas in certain areas of bioethics. When it comes to genetic screening and testing however, the problem at the base is a moral disagreement on higher-order principles--such as the status of the embryo and parental issues. No amount of specification can resolve these issues without a dose of relativism. We explore a possibility of agreement on debatable areas specifically in regard to genetics--such as conferring status to the embryo solely for purposes of preventing genetic selection; but it is difficult to see how this can be incorporated into law without extrapolation to other areas. We conclude therefore that the four-principles approach, albeit valuable for expounding opposing views and discussing issues, cannot either alone or by specification, help resolve issues of genetic screening and testing without agreeing on higher order principle. This does not seem to be a possibility in the near future.

Abortion, Therapeutic↗

PubMed2005

Initially misleading communication of carrier results after newborn genetic screening.

BACKGROUND: Newborn screening saves lives, but the way in which parents learn of a positive screening test is also important for adherence with treatment plans and avoidance of psychosocial complications. The first messages provided to parents may be particularly important for understanding, especially when the infant is found to be a heterozygous carrier for sickle cell hemoglobinopathy (SCH) or cystic fibrosis (CF). This study investigated the prevalence of "initially misleading" communication, defined as the inclusion of 1 of 55 "bad-news" content items (eg, the screening test is positive) before any of 39 "good-news" content items (eg, the infant is healthy, normal, a carrier, or otherwise without problems). METHODS: As part of a larger study of the content of counseling after newborn genetic screening, we used a quantitative, explicit-criteria method to abstract 59 transcribed conversations between pediatric residents and standardized parents of an "infant" who was found through newborn screening to carry either CF or SCH. RESULTS: Of 59 transcripts, 41 were found to be misleading (at least 1 bad-news content statement before the first good-news content statement). There were significantly more misleading likely-CF-carrier than SCH-carrier transcripts (89.7% vs 50%). Among the misleading transcripts, the mean number of misleading statements was 5.5. The mean distance between the first bad-news and first good-news statements was 28.1 statements (20.5% of the total duration of counseling). DISCUSSION: The high prevalence of misleading content and the time lag before clarification does not bode well for parental understanding of infant carrier status. Future projects should improve curricula for training programs and develop quality-assurance efforts for community clinicians both to improve parental understanding and help assuage society's fears about the safety of genetic screening technologies.

Adult↗

PubMed1993

The nursing perspective: genetic screening and testing.

This article reviews the growing field of human genetics and discusses genetic screening and testing. The author identifies many ways that school nurses can meet the needs of students with genetic disease and genetic traits as well as prepare students for the future.

Genetic Counseling↗

PubMed1996

[Serum screening in pregnant women for Down syndrome and open neural-tube defects; testing against the Health Council criteria for genetic screening].

OBJECTIVE: To check whether serum screening for Down syndrome and open neural tube defects satisfies the criteria set by the 'Committee Genetic screening' of the Dutch Health Council. DESIGN: Theoretical evaluation. METHOD: Serum screening (the combined serum assessment of alpha-fetoprotein, human chorionic gonadotrophin and unconjugated oestriol, taking into consideration maternal age) was assessed against the Dutch Health Council criteria. The absolute criteria could be subdivided into a group of general conditions not related to a particular screening programme, and a group of programme-specific conditions. RESULTS: Population serum screening satisfied some of the absolute criteria, while the programme-specific conditions should be realised in an actual screening programme. Psychological and community consequences of such a screening have not yet been investigated in the Dutch population.

Chorionic Gonadotropin↗

PubMed2005

A genetic screen identifies genes and sites involved in pilin antigenic variation in Neisseria gonorrhoeae.

It has previously been shown that the frequency of pilin antigenic variation in Neisseria gonorrhoeae (the gonococcus, Gc) is regulated by iron availability. To identify factors involved in pilin variation in an iron-dependent or an iron-independent manner, we conducted a genetic screen of transposon-mutated gonococci using a pilus-dependent colony morphology phenotype to detect antigenic variation deficient mutants. Forty-six total mutants representing insertions in 30 different genes were shown to have reduced colony morphology changes resulting from impaired pilin variation. Five mutants exhibited an iron-dependent decrease in pilin variation, while the remaining 41 displayed an iron-independent decrease in pilin variation. Based on the levels of antigenic variation impairment, we defined the genes as being essential for, important for, or involved in antigenic variation. DNA repair and DNA transformation frequencies of each mutant were measured to determine whether other recombination-based processes were also affected in the mutants. Each mutant was placed into one of six classes based on their pilin variation, DNA repair and DNA transformation phenotypes. Among the many genes identified, recR is shown to be an additional member of the gonococcal RecF-like recombination pathway. In addition, recG and ruvA represent the first evidence that the processing of Holliday junctions is required for pilin antigenic variation. Moreover, two independent insertions in a non-coding region upstream of the pilE gene suggest that cis-acting sequences important for pilin variation are found in that region. Finally, insertions that effect expression of the thrB and thrC genes suggest that molecules in the threonine biosynthetic pathway are important for pilin variation. Many of the other genes identified in this genetic screen do not have an obvious role in pilin variation, DNA repair, or DNA transformation.

Antigenic Variation↗

PubMedDate not supplied

Genetic screening.

The family planning nurse practitioner may be the client's only link to genetic screening, education, and counseling. The principles of genetics, the types of genetic defects and their causes are presented. Clients at risk and the nurse practitioner's role in providing education, support, counseling, and referrals are discussed.

Chromosome Aberrations↗

PubMed1981

Genetic screening for mental retardation in Michigan.

The Michigan Department of Mental Health established a genetic screening laboratory in 1977 to provide diagnostic information on retarded patients. Of 727 patients screened during a 2-year period, a genetic diagnosis was established for 121 moderately to severely retarded patients. Genetic counseling was provided for 40 percent of their parents. A wide variety of chromosomal abnormalities, inborn errors of metabolism, and dysmorphic syndromes was discovered, including 16 instances of previously unknown familial conditions. This program has demonstrated a cost-effective method for determining genetic etiology in mental retardation and, in some instances, has led to prevention of mental retardation.

Abnormalities, Multiple↗

PubMed2006

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel.

Nonsyndromic mental retardation (NSMR) is the diagnosis of exclusion in mentally retarded individuals without additional abnormalities. We have recently identified a protein-truncating mutation, G408fsX437, in the gene CC2D1A on chromosome 19p13.12 in nine consanguineous Israeli Arab families with severe autosomal recessive NSMR, and have developed a comprehensive prevention program among the at-risk population in the village. The subjects tested were healthy women who were invited to undergo the genetic screening test as a part of their routine pregnancy monitoring. One hundred and seventeen subjects reported a family history positive for mental retardation. We tested 524 pregnant or preconceptional women and found 47 carriers (approximately 1/11), whose spouses were then recommended to undergo testing. We identified eight carrier couples, who were given genetic counseling and offered prenatal diagnosis. Of all the marriages, 28.6% were consanguineous; 16.5% of the total were between first cousins. The high prevalence of the mutation can be explained both by the founder effect owing to the generally high consanguinity rate among the inhabitants of the village, and also because two families with excessive numbers of mentally retarded offspring were unacceptable as marriage partners by the rest of the families. This is the first example of the establishment of a large-scale genetic screening program for autosomal recessive NSMR, which was made possible owing to the high frequency of the specific causative mutation in this isolated population.

DNA-Binding Proteins↗

PubMed2001

Points to consider in designing a clinical trial to ascertain the utility of a genetic screening test.

In designing a clinical trial to ascertain the utility of a genetic screening test, the follow recommendations should be considered: (1) imbed the genetic test in a genetic service; (2) choose a specific outcome to monitor; (3) compare two strategies for achieving the desired outcome; (4) assemble a multidisciplinary team; (5) attempt to reach all potential subjects in a defined region; (6) derive an outcome for each subject; (7) assess each expected benefit and burden.

Clinical Trials as Topic↗