Search results for "chromosome"
showing 10 items of 1175 documents
Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man.
1976
The family of an individual was studied who lacks the seventh component of complement in his serum (C7 homozygous deficiency). Both parents are C7 heterozygousdeficient. In this investigation, the following parameters were determined: complement components in functional and immunochemical tests; HLA-A,B antigens, HLA-D (MLC) determinants; the Bf system; glyoxalase I and B cell antigens. No evidence for linkage between the immunogenetic linkage group on chromosome 6 and gene(s) controlling the synthesis of the seventh component of complement was obtained. This is in accordance with the assumption that only genes controlling components of the initiating rather than the membrane attack unit of…
Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome.
2013
No abstract available
Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders
2011
CGH techniques allow us to detect small duplications thatoccur in humans with phenotypic manifestations and demon-strate the importance of these duplications in the etiologyof neurodevelopmental impairment. As in the case of otherX-linked disorders, X-inactivation plays a major role in theclinical expression of such X chromosomal imbalances withusually milder symptoms in females than in males. Mostmale patients carrying Xp duplication have mental retarda-tion (X-linked mental retardation) and variable facial dys-morphic features (Gimelli
Genetics in restless legs syndrome
2004
Several studies on Restless leas syndrome (RLS) have suggested a substantial genetic contribution in the etiology of this sleep disorder. Clinical surveys of idiopathic RLS patients have shown that up to 60% report a positive family history. Investigations of single families with RLS have suggested an autosomal dominant mode of inheritance with variable expressivity, and some families show possible anticipation. At present, only one twin study is available, showing a high concordance rate (83.3%) between identical twins. Despite several reports suggesting a genetic contribution to the etiology of idiopathic RLS, few molecular genetic studies have been carried out attempting to identify gene…
The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening.
2013
Largely because of efforts required to complete the Human Genome Project, DNA sequencing has undergone a steady transformation with still-ongoing developments of high-throughput sequencing machines for which the cost per reaction is falling drastically. Similarly, the fast-changing landscape of reproductive technologies has been improved by genetic approaches. Preimplantation genetic diagnosis and screening were established more than two decades ago for selecting genetically normal embryos to avoid inherited diseases and to give the highest potential to achieve stable pregnancies. Most recent additions to the IVF practices (blastocyst/trophectoderm biopsy, embryo vitrification) and adoption…
Chicken orthologues of mammalian imprinted genes are clustered on macrochromosomes and replicate asynchronously.
2005
In the chicken genome, most orthologues of mouse imprinted genes are clustered on macrochromosomes. Only a few orthologues are located in the microchromosome complement. Macrochromosomal and, to a lesser extent, microchromosomal regions containing imprinted gene orthologues exhibit asynchronous DNA replication. We conclude that highly conserved arrays of imprinted gene orthologues were selected during vertebrate evolution, long before these genes were recruited for parent-specific gene expression by genomic imprinting mechanisms. Evidently, the macrochromosome complement provides a better chromatin environment for the establishment of asynchronous DNA replication and imprinted gene expressi…
3H-uridine labelling patterns and chromosomal polymorphism inDrosophila subobscura: J and U chromosomes
1984
The3H-uridine labelling patterns in J and U polytene chromosomes ofDrosophila subobscura were determined. The analysis was carried out in two developmental stages and in two strains proceeding from the same geographical origin whose genotypes were: Jst/Jst; U1+2/U1+2 and J1/J1; U1+2+8/U1+2+8 respectively. It was observed that the labelling pattern coincided very approximately with the puffing pattern in the same stages and chromosomal arrangements. Comparison of the3H-Uridine incorporation patterns between chromosomal arrangements showed light quantitative differences. These results are discussed in relation to the inversion effect.
The evolution of dosage-compensation mechanisms
2000
Dosage compensation is the process by which the expression levels of sex-linked genes are altered in one sex to offset a difference in sex-chromosome number between females and males of a heterogametic species. Degeneration of a sex-limited chromosome to produce heterogamety is a common, perhaps unavoidable, feature of sex-chromosome evolution. Selective pressure to equalize sex-linked gene expression in the two sexes accompanies degeneration, thereby driving the evolution of dosage-compensation mechanisms. Studies of model species indicate that what appear to be very different mechanisms have evolved in different lineages: the male X chromosome is hypertranscribed in drosophilid flies, bot…
Multiple sex-chromosome system and other karyological characterizations of Pterotrachea hippocampus (Mollusca: Mesogastropoda)
1993
Two modal diploid numbers of chromosomes were found for Pterotraches hippocampus Philippi (Mollusca: Mesogastropoda) collected from the Gulf of Palermo in 1990: 2n=31 and 32 for males and females, respectively. This, along with other karyological characteristics such as the occurrence of a trivalent configuration at diakinesis and two types of metaphase-II spreads in spermatocytes, supports the notion that a X1X2Y♂/X1X1X2X2♀ sex mechanism operates in the species investigated here. Silver nitrate procedure revealed an intraindividual variation in the Ag-staining pattern occurring in this species. The majority of the chromosome pair displayed terminal and/or interstitial heterochromatic block…
Karyotype analyses reveal inter-individual polymorphism and association of nucleolus-organizer-carrying chromosomes in Capros aper (Pisces: Zeiformes)
1992
Three different karyomorphs with 2n=46, 2n=44 and 2n=42 for Capros aper (L., 1758) (Zeiformes) collected from the Gulf of Lion, near Banyuls-sur-Mer, France, in July 1990 were determined. Karyomorphs were characterized by the same arm number [Fundamental number (FN)=50], suggesting that chromosome variations are due to Robertsonian fusions. In somatic metaphase spreads stained with silver nitrate, nucleolus organizer regions (NORs) consistently occupied a terminal position on the short arms of two small submetacentric chromosomes. Ca. 30% of silver-stained metaphases in each specimen showed NOR chromosomes associated in pairs by their nucleolus organizer regions.