Showing papers in "Genomics in 1989"

TL;DR: It is suggested that the natural selection against large insertion/deletion is so weak that a large amount of variation is maintained in a population.

TL;DR: It is found that most single base changes in up to 200-base fragments could be detected as mobility shifts and the interspersed repetitive sequences of human, Alu repeats are highly polymorphic.

TL;DR: The use of the ligation amplification reaction (LAR) is demonstrated to distinguish the normal from the sickle cell allele of the human beta-globin gene and as a detection system for polymerase chain reaction-enriched DNA sequences.

TL;DR: The human chromosomal growth hormone locus contained on cloned DNA and spanning approximately 66,500 bp was sequenced in its entirety to provide a framework for the analysis of its biology and evolution.

TL;DR: Estimates of the types and numbers of oligonucleotides that would have to be synthesized in order to sequence a megabase plus segment of DNA have been used to show advantages over existing methods because of the inherent redundancy and parallelism in its data gathering.

TL;DR: The sequence of the entire human gene encoding beta-glucocerebrosidase and that of the associated pseudogene is reported to facilitate development of methods for diagnosis of Gaucher disease at the molecular level.

TL;DR: Data for AMEL mapping support the notion of a pericentric inversion occurring in the human Y chromosome during primate evolution, and are consistent with the hypothesis that perturbation of the amelogenin gene is involved in X-linked types of amelogenesis imperfecta.

TL;DR: The physical distance between DNA sequences in interphase nuclei was determined using eight cosmids containing fragments of the Chinese hamster genome that span 273 kb surrounding the dihydrofolate reductase (DHFR) gene to indicate that the DNA is condensed 70- to 100-fold in hybridized nuclei relative to a linear DNA helix molecule.

TL;DR: Members of a large pedigree of Irish origin presenting with early onset Type I autosomal dominant retinitis pigmentosa (ADRP) have been typed for D3S47 (C17), a polymorphic marker from the long arm of chromosome 3, hence localizing the ADRP gene (RP1) segregating in this pedigree to 3q.

TL;DR: The results suggest that some of the observed allele losses reflect random events, possibly as a result of genetic instability, but are not without biological significance for the progression of particular subclasses of breast tumors.

TL;DR: Using somatic cell hybrids, in situ hybridization, and field-inversion gel electrophoresis as well as deletion mapping in a patient with Norrie disease, it is concluded that these two genes are close to each other and to the DXS7 locus.

TL;DR: Mice mosaic for cells carrying a nonparental allele in somatic tissue, and in some cases also in the germline, provide evidence for additional, somatic, mutation events at Ms6-hm, which must occur very early in development, preceding the allocation of somatic lineages.

TL;DR: Given the results, which in some patients were in disagreement with their cytogenetic descriptions, trisomy for locus D21S13 through locusD21S58 is excluded from significant contribution to many Down syndrome features, the minimal chromosome region necessary in triplicate to result in the Down syndrome phenotypes in the patients characterized.

TL;DR: Through the use of a cDNA probe, the human erbB-2 gene was localized by in situ hybridization of normal human chromosomes at 17q11-q21.32 and this localization may facilitate the search for human malignancies with chromosome changes involving the erbBs gene.

TL;DR: An analysis of the distribution of Alu repetitive sequences appearing in the GenBank sequence database indicates that there are local domains with varying Alu placement densities, and in situ hybridization to human metaphase chromosomes indicates that local density domains for AlU placement can be observed cytologically.

TL;DR: A fluorescence-based method for the automated analysis of DNA fragments on polyacrylamide gels offers very near single-base resolution up to 400 bases and the ability to quantitate fragment size up to 2000 bases and is applied to the analysis of overlapping cosmids.

TL;DR: Direct genomic DNA sequencing has been used to characterize the mutation associated with familial amyloidotic polyneuropathy in the Maryland/German kindred and a new method for the direct detection of single base changes in genomic DNA was developed using the polymerase chain reaction and an allele-specific oligonucleotide primer.

TL;DR: Tpx-1 (TPX1) and a sperm-coating glycoprotein gene are closely related, but distinct, genes belonging to the same gene family.

TL;DR: In this article, the authors used genetic linkage maps to identify flanking markers surrounding a VNTR marker locus, and they were able to characterize 12 new-allele events in terms of crossingover between the flanks markers.

TL;DR: The functional gene locus for the E1 alpha subunit of the human pyruvate dehydrogenase complex has been localized to the p22.1-22.2 region of the X chromosome by in situ hybridization and analysis of somatic cell hybrids with various human X-chromosome rearrangements.

TL;DR: A cDNA for the neurotransmitter-degrading enzyme monoamine oxidase-A (MAO-A) has been assigned by in situ hybridization to the human X chromosome and subregionally localized to Xp11.23-11.4.

TL;DR: It is suggested that the high degree of conservation of the mouse gamma-satellite sequences throughout the mouse genome results from frequent recombinational exchange between nonhomologous chromosomes.

TL;DR: The polymerase chain reaction was used to clone a full-length human methylmalonyl-CoA mutase cDNA from a human liver library by priming with sequences from the 5' end of a partial cDNA and sequences in the phage vector.

TL;DR: A combination of 30 serological, protein electromorphic, and DNA markers defining 28 loci to construct a linkage map of chromosome 1, with highly polymorphic markers reflecting loci that contain a variable number of tandem repeats well distributed over the length of the chromosome.

TL;DR: The usefulness of this rapid screening procedure, which has broad applications in human genetics and can be used as an alternative to RFLP analysis in carrier detection or prenatal diagnosis studies, is demonstrated.

TL;DR: It is shown that mutation events altering the number of minisatellite repeat units are not restricted to the germline, but also arise in other tissues, implying that such mutations can occur in the absence of meiosis.

TL;DR: Polymorphic chromosome 10 markers were used to screen paired tumor and lymphocyte DNA samples in 13 patients with glioblastoma multiforme and showed loss of constitutional heterozygosity in the tumor samples, suggesting that a recessive gene involved in the development of gliOBlastomaMultiforme is present on chromosome 10.

TL;DR: It is suggested that the IP locus lies in the Xq terminal region on the long arm of the X chromosome.

TL;DR: The genomic organization of the human alpha-amylase genes was isolated from a cosmid library constructed of DNA from an individual expressing three different salivary amylase allozymes and two haplotypes, short and long, were identified.