Showing papers in "Genomics in 1992"

TL;DR: An expert system is reported for predicting localization sites of proteins only from the information on the amino acid sequence and the source origin, which is powerful and flexible enough to be used in genome analyses.

TL;DR: The results suggest that trimeric and tetrameric STR loci are useful markers for the study of new mutations and genetic linkage analysis and for application to personal identification in the medical and forensic sciences.

TL;DR: DOP-PCR represents a rapid, efficient, and species-independent technique for general DNA amplification, and has advantages over interspersed repetitive sequence PCR (IRS- PCR), which relies on the appropriate positioning of species-specific repeat elements.

TL;DR: All 240 islands identified are associated with genes, and almost all cover at least a part of one exon; i.e., they are useful landmarks in the genome for identifying genes.

TL;DR: Analysis of a 40-bp repeat in the 3' untranslated region of the message revealed variable numbers of the repeat ranging from 3 to 11 copies, which will aid in the investigation of a role for this gene in genetic disorders of the dopaminergic system in humans.

TL;DR: This work shows that the tethered oligonucleotides method has a number of potential advantages over gel-based methods: it should be easy to automate; the quality of the sequence results can be evaluated statistically; it provides a powerful way of comparing related sequences and detecting mutation.

TL;DR: In this article, summaries of GenBank searches for all possible human and rat microsatellites ranging from mononucleotide to tetranucleotide repeat motifs are presented.

TL;DR: A sensitive technique for detecting single base substitutions in polymerase chain reaction (PCR) products from individuals heterozygous for polymorphisms or new mutations should prove useful for rapidly screening large numbers of individuals for new mutations or polymorphisms.

TL;DR: Using a systematic method based on incorporating the possibility of error into the usual likelihood model for linkage analysis, it is possible to construct genetic maps allowing for error and to identify the typings most likely to be in error.

TL;DR: This work has demonstrated a RNA processing error in GRMD that results from a single base change in the 3' consensus splice site of intron 6, which predicts a termination of the dystrophin reading frame within its N-terminal domain in exon 8.

TL;DR: An effective computer program for assembling DNA fragments, the contig assembly program (CAP), has been developed and the performance tests of the program on fragment data from genomic sequencing projects produced satisfactory results.

TL;DR: Using primers derived from the known rat cDNA sequence for COMT, an amplified DNA fragment is produced corresponding to the complete coding region of the rat gene and hybridized DNAs from two panels consisting of human/rodent and human/hamster somatic cell hybrids carrying various translocations and deleting to refine the chromosomal location of human COMT.

TL;DR: A genotyping method based on fluorescently labeled PCR primers and size characterization of PCR products using an automated DNA fragment analyzer is reported, which increases by threefold the number of loci that can be analyzed simultaneously.

TL;DR: The spectrum of cystic fibrosis mutations was determined in 105 patients by using denaturing gradient gel electrophoresis to screen the entire coding regions and adjacent CFTR gene sequences to document the highly heterogeneous nature of CF mutations and provide the information required for DNA-based genetic testing.

TL;DR: The complex patterns of expression of individual cyclin D genes and their evolutionary conservation across species suggest that each family member may play a distinct role in cell cycle progression.

TL;DR: One hundred highly informative simple sequence repeat (SSR) polymorphisms have been isolated and mapped to specific human chromosomes by somatic cell hybrid analysis and at least one SSR was detected on every chromosome.

TL;DR: Dideoxy fingerprinting (ddF), a hybrid between dideoxy sequencing and SSCP that can detect the presence of single base and other sequence changes in PCR-amplified segments, is described and suggests an inherent limitation in the detection of certain mutations by SSCP.

TL;DR: Alu-PCR protocols were optimized for the generation of human DNA probes from yeast strains containing yeast artificial chromosomes (YACs) with human inserts between 100 and 800 kb in size to facilitate the rapid mapping of YAC clones and their use in chromosome analysis at all stages of the cell cycle.

TL;DR: Results confirm the presence of two distinct USH1 loci on chromosome 11, and linkage analysis demonstrates locus heterogeneity between these sets of families, with the French-Acadian families showing linkage to D11S419 (Z = 4.20, theta = 0) and the British families showing links to D 11S527 (Z= 6.03, theTA = 0).

TL;DR: A simple, efficient method by which microdissected material can be amplified directly in the collection container in a few hours, and obtained a chromosome 6q25-qter-specific painting probe in this way.

TL;DR: It is proposed that expression of the gene detected by DN34 is regulated by genomic imprinting and, therefore, that it is a candidate gene for PWS and/or AS, and DNA methylation may be used as a reliable, postnatal diagnostic tool in these syndromes.

TL;DR: Polymerase chain reaction (PCR) amplification of rho1 and rho2 gene sequences from DNA of three somatic cell hybrid panels maps both genes to human chromosome 6, bands q14 to q21, and tight linkage was demonstrated between restriction fragment length variants (RFLVs) from each rho gene and the Tsha locus on mouse chromosome 4.

TL;DR: Isolation and characterization of genomic clones revealed two pseudogenes corresponding to CCND2 and CCND3, respectively, which are most closely related to cyclin A and cyclin E (36%), followed by cyclin B (29%) andcyclin C (21%).

TL;DR: This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527, and this second localization establishes the existence of a new and independent locus forUsher syndrome.

TL;DR: The genes encoding receptors for the chemotactic ligands C5a (C5AR) and FMLP (FPR) were mapped using a panel of somatic cell hybrids to chromosome 19 and two structural homologues of the FMLP receptor were identified.

TL;DR: Locating and characterizing the NCMD gene may be an important step in understanding this group of maculopathies as well as age-related macular degeneration (AMD), a common cause of blindness in the elderly.

TL;DR: To construct a framework map of human chromosome 9 consisting of highly informative markers, 36 cosmid clones from chromosome 9 that contained long GT repeat sequences were identified and two spontaneous new mutations were identified, giving an overall observed spontaneous mutation rate of 0.00045 per locus per gamete.

TL;DR: Backcross progeny from a cross between two inbred lines of chickens to construct a linkage map of the chicken will be of use in locating genes affecting disease resistance, but also illustrates the relative ease with which such maps for the chicken can be constructed.

TL;DR: Analysis of an area of 110 kb surrounding the kallikrein genes by CHEF electrophoresis and chromosome walking showed clustering of the three genes, and a CpG island was detected in the region between KLK1 and APS.