Search results for "CHROMOSOME"
showing 10 items of 1175 documents
Inherited pericentric inversion of human chromosome 5.
1983
Une inversion pericentrique heterozygote du chromosome 5 a ete decouverte dans les cellules de la moelle osseuse et dans les lymphocytes peripheriques stimules par le phytohemagglutinine d'une femme de 75 ans atteinte de myelofibrose et de metaplasie myeloide. L'inversion etait presente dans 100% des metaphases etudiees. Les points de cessure du chromosome 5 etaient localises en k15 et q10. Une etude de la famille est presentee
Brief communication. Stable Drosophila buzzatii-Drosophila koepferae hybrids
1998
Previous experiments discovered high rates of chromosomal rearrangements in the progeny of males containing a telomeric segment of Drosophila koepferae in a D. buzzatii genetic background (segmental males). We have performed similar experiments, designed to test whether this chromosomal instability could be explained by a phenomenon similar to P-M hybrid dysgenesis or, alternatively, by a generalized telomeric effect. However, the results obtained have not allowed us to fully characterize this process, because we have not observed chromosomal rearrangements in the progeny of the putative unstable males. Our results suggest that chromosomal instability is independent of the introgressed frag…
Signature of recent historical events in the European Y-chromosomal STR haplotype distribution
2005
Previous studies of human Y-chromosomal single-nucleotide polymorphisms (Y-SNPs) established a link between the extant Y-SNP haplogroup distribution and the prehistoric demography of Europe. By contrast, our analysis of seven rapidly evolving Y-chromosomal short tandem repeat loci (Y-STRs) in over 12,700 samples from 91 different locations in Europe reveals a signature of more recent historic events, not previously detected by other genetic markers. Cluster analysis based upon molecular variance yields two clearly identifiable sub-clusters of Western and Eastern European Y-STR haplotypes, and a diverse transition zone in central Europe, where haplotype spectra change more rapidly with longi…
Genetic analysis of heat shock response in three Drosophila species of the obscura group
1992
Heat shock response was investigated in three species of the obscura group of the Drosophila genus (D. subobscura, D. guanche, and D. madeirensis) by chromosome cytology analysis and [3H]uridine labeling. A set of eight puffs (2C, 15DE, 18C, 27A, 31CD, 85AB, 89A, and 94A) were induced after heat treatments in each of the three species; 18C, 27A, 89A, and 94A were the most heavily labeled in the autoradiograms after the induced conditions. From the in situ results using the major heat shock genes of D. melanogaster as a probe, it was inferred that the 18C, 94A, 89A, and 27A loci of the three obscura group species are homologous to D. melanogaster loci, which contain, HSP82, HSP70, HSP68, an…
Patterns of puffing activity and chromosomal polymorphism in Drosophila subobscura I. J. and U chromosomes
1982
A study of the puffing patterns of the Jst, J1, U1−2, U1−2−8 and Ust chromosomal arrangements of Drosophila subobscura, from different geographical origins, has been carried out. Twenty-eight puffs were observed, 10 on the J chromosome, and 18 on the U chromosome. No differences, whether qualitative or quantitative, have been found between the puffing pattern of the J chromosome, whether from the same of different geographical background. In the U chromosome, the U1−2 and U1+2+8 arrangements show the same puffing pattern, and neither quantitative nor qualitative differences were found. However, the puffing pattern of these chromosomes alters considerably in the Ust arrangement of the K228 l…
Towards a Physical Map of the HLA Complex
1989
The human major histocompatibility (HLA) complex is located on the short arm of chromosome 6 in the 6p21.31→6p21.33 region (1,2). There are three clusters of genes, the HLA class I, II, and III regions. Whereas the class III loci are only moderately polymorphic (see (3) for review), the class I and II genes which encode cell surface glycoproteins show an extreme degree of polymorphism. There are a minimum of 17 class I loci (4) and at least 15 genes for class II alpha and beta chains (5). In addition, we (6) and others (7) have recently demonstrated that also the loci for tumor necrosis factor (TNFA) and lymphotoxin (TNFB) are part of the HLA complex [see also Ragoussis et al., this volume]…
De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5' end of the HOXB gene cluster in a patient with developmental delay and skel…
2007
A boy with severe mental retardation, funnel chest, bell-shaped thorax, and hexadactyly of both feet was found to have a balanced de novo t(12;17)(p13.3;q21.3) translocation. FISH with BAC clones and long-range PCR products assessed in the human genome sequence localized the breakpoint on chromosome 17q21.3 to a 21-kb segment that lies <30 kb upstream of the HOXB gene cluster and immediately adjacent to the 3′ end of the TTLL6 gene. The breakpoint on chromosome 12 occurred within telomeric hexamer repeats and, therefore, is not likely to affect gene function directly. We propose that juxtaposition of the HOXB cluster to a repetitive DNA domain and/or separation from required cis-regulatory …
Results of collaborative study regarding the standardization of the Y-linked STR system DYS385 by the European DNA Profiling (EDNAP) group.
1999
Y-chromosome linked short tandem repeat (STR) loci are inherited as a closely linked haplotype, which appears to remain stable in a given paternal lineage over many generations. In forensic cases, Y-linked STRs are particularly useful for the identification of human remains as well as in rape cases with mixed male/female stain samples. DYS385 is derived from tandemly duplicated segments of the Y chromosome thus giving rise to two fragments of variable length which do not behave like alleles but genotypes. The European DNA Profiling (EDNAP) group has carried out a collaborative exercise among 14 participating laboratories using DYS385 for typing of five unknown bloodstains and a control samp…
Scanning electron microscopy of heterochromatin in chromosome spreads of male germ cells in Schistocerca gregaria (Acrididae, Orthoptera) after tryps…
1996
Chromosome spreads, prepared from testes of the desert locust Schistocerca gregaria, were analyzed using scanning electron microscopy (SEM) after varying periods of preincubation in trypsin. The emphasis of the study was on the appearance of heterochromatin. A trypsin pretreatment of 5 sec resulted in a smooth surface on the chromatin throughout and the heterochromatin was highly electron-emissive. The facultatively heterochromatic X chromosome was clearly visible in interphase spermatogonia and in pachytene and late prophase I spermatocytes. Chromomeres of autosomal bivalents could be recognized in pachytene cells. Centromeric heterochromatin segments were very prominent in autosomes of la…
Potential linkage for schizophrenia on chromosome 22q12-q13: a replication study.
1995
In an attempt to replicate a potential linkage on chromosome 22q12-q13.1 reported by Pulver et al. [1994: Am J Med Genet 54:36–43], we have analyzed 4 microsatellite markers which span this chromosomal region, including the IL2RB locus, for linkage with schizophrenia in 30 families from Israel and Germany. Linkage analysis by pairwise lod score analysis as well as by multipoint analysis did not provide evidence for a single major gene locus. However, a lod score of Zmax = 0.612 was obtained for a dominant model of inheritance with the marker D22S304 at recombination fraction 0.2 by pairwise analysis. In addition, using a non-parametric method, sib pair analysis, a P value of 0.068 correspon…