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Results for “Genetic screen”

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At least 433 records · Page 24Linked to original sources
PubMed2003

A genetic screen for synaptic transmission mutants mapping to the right arm of chromosome 3 in Drosophila.

Neuronal function depends upon the proper formation of synaptic connections and rapid communication at these sites, primarily through the regulated exocytosis of chemical neurotransmitters. Recent biochemical and genomic studies have identified a large number of candidate molecules that may function in these processes. To complement these studies, we are pursuing a genetic approach to identify genes affecting synaptic transmission in the Drosophila visual system. Our screening approach involves a recently described genetic method allowing efficient production of mosaic flies whose eyes are entirely homozygous for a mutagenized chromosome arm. From a screen of 42,500 mutagenized flies, 32 mutations on chromosome 3R that confer synaptic transmission defects in the visual system were recovered. These mutations represent 14 complementation groups, of which at least 9 also appear to perform functional roles outside of the eye. Three of these complementation groups disrupt photoreceptor axonal projection, whereas the remaining complementation groups confer presynaptic defects in synaptic transmission without detectably altering photoreceptor structure. Mapping and complementation testing with candidate mutations revealed new alleles of the neuronal fate determinant svp and the synaptic vesicle trafficking component lap among the collection of mutants recovered in this screen. Given the tools available for investigation of synaptic function in Drosophila, these mutants represent a valuable resource for future analysis of synapse development and function.

Animals↗
PubMed2002

Genetic screening for cystic fibrosis.

The importance of the recent recommendations that address cystic fibrosis carrier screening cannot be overemphasized. For the first time, a systematic approach to offering or making screening available to all pregnant women in the hopes of providing refined risk estimates for a genetic disease has been established. Caucasian of European or Ashkenazi-Jewish descent should be offered screening. Within the proposed guidelines are ethnic-specific carrier frequencies (1/29) used to establish who should be offered testing and to whom testing should be made available. Recent recommendations have made clear that in a pan-ethnic population a frequency of 1/1,000 is required for inclusion into the cystic fibrosis mutation panel. A general framework for screening during pregnancy has been established (either concurrent or sequential). It will be interesting to watch as the fruits of the human genome project are inspected and applied to everyday clinical practice. No doubt the cost of screening will be reduced through advances in technology. The combined efforts of NIH, ACOG, and ACMG have provided the first set of comprehensive standards for screening of recessive diseases. How time changes these guidelines deserves following.

Cystic Fibrosis↗
PubMedDate not supplied

Screening for genetic disorders.

Recent additions to genetic screening programs include DNA testing to identify carriers of certain disorders, presymptomatic detection of certain disorders, newborn screening for hemoglobinopathies, and maternal serum alpha fetoprotein screening during pregnancy. Purposes and limitations of each of these new screening programs are discussed. Responsibilities of nurse practitioners for educating clients about genetic screening tests is emphasized.

Anemia, Sickle Cell↗
PubMedDate not supplied

Genetic screening methods for the detection of mutations responsible for multiple endocrine neoplasia type 1.

Identification of mutations, which cause genetic diseases can be difficult when the disease is caused by the mutation of a large gene, which contains multiple exons. Detection of these mutations by DNA sequencing can be made more efficient by using mutation detection methods for pre-screening to identify the affected exon and to screen for the presence of already identified mutations in family members. These screening methods include denaturing gradient gel electrophoresis (DGGE), temperature gradient gel electrophoresis (TGGE), single-strand conformation polymorphism, conformation-sensitive gel electrophoresis (CSGE), heteroduplex analysis and denaturing high-performance liquid chromatography (DHPLC). We discuss the advantages and shortcomings of these methods by reviewing the results of studies screening for mutations causing multiple endocrine neoplasia type 1 (MEN 1) syndrome, an autosomal dominant disorder characterized by endocrine tumours of the anterior pituitary gland, parathyroid glands, and pancreas. MEN 1 is caused by mutations of the MEN1 gene, a tumour suppressor gene, which contains one untranslated exon and nine exons. Previous studies have identified more than 400 germline and somatic mutations spreading across all the encoding sequence, and found no mutational "hot spot" or genotype-phenotype correlation. The wide diversity of mutations in the entire coding region of the MEN1 gene makes mutation screening time-consuming and expensive. We conclude that combination of mutation detection methods with DNA sequencing enhances the efficiency of identifying pathogenic mutations. However, it should be considered that experimental determination of the optimal electrophoresis conditions, such as using perpendicular electrophoresis to optimise DGGE or TGGE, is more useful than computerized algorithms to calculate these parameters.

Electrophoresis↗
PubMed1998

Results of a genome-wide genetic screen for panic disorder.

Panic disorder is characterized by spontaneous and recurrent panic attacks, often accompanied by agoraphobia. The results of family, twin, and segregation studies suggest a genetic role in the etiology of the illness. We have genotyped up to 23 families that have a high density of panic disorder with 540 microsatellite DNA markers in a first-pass genomic screen. The thirteen best families (ELOD > 6.0 under the dominant genetic model) have been genotyped with an ordered set of markers encompassing all the autosomes, at an average marker density of 11 cM. Over 110,000 genotypes have been generated on the whole set of families, and the data have been analyzed under both a dominant and a recessive model, and with the program SIBPAIR. No lod scores exceed 2.0 for either parametric model. Two markers give lod scores over 1.0 under the dominant model (chromosomes 1p and 20p), and four do under the recessive model (7p, 17p, 20q, and X/Y). One of these (20p) may be particularly promising. Analysis with SIBPAIR yielded P values equivalent to a lod score of 1.0 or greater (i.e., P < .016, one-sided, uncorrected for multiple tests) for 11 marker loci (2, 7p, 8p, 8q, 9p, 11q, 12q, 16p, 20p and 20q).

Adolescent↗