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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract As part of our effort to isolate and characterise the von Hippel-Lindau (VHL) disease gene, we constructed a physical map of chromosome 3p25-26 by fluorescence in situ hybridisation (FISH) studies on a panel of cytogenetic rearrangements involving this region. Biotinylated cosmid and lambda probes were hybridised to metaphase chromosome spreads and positioned with respect to each cytogenetic breakpoint. These studies unequivocally established the order of five loci linked to the VHL disease gene: cen-(RAF1,312)-D3S732-D3S1250-D3S601-D3S18-pter and determined the position of three other probes within this map. These results ordered RAF1 and D3S732 for the first time, confirmed the localisation of D3S1250 between RAF1 and D3S601 and determined the position of D3S651 with respect to other chromosome 3p25-p26 loci. The establishment of an ordered set of cytogenetic aberrations will enable the rapid assignment of polymorphic and nonpolymorphic cloned sequences within the chromosome region 3p25-p26.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Linkage analysis has been carried out in nine unrelated families segregating for X-linked ichthyosis (steroid sulfatase deficiency) using seven polymorphic DNA markers from the distal Xp. Close linkage was found between the disease locus and the loci DXS16, DXS89, and DXS143. In all families except one, Southern hybridization with the human steroid sulfatase cDNA and GMGX9 probes showed a deletion of corresponding loci in affected males. Three patients belonging to the same family had no evident deletion with either of the two above-mentioned probes. None of the other six DNA loci included in the linkage analysis were found to be deleted.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. A comprehensive cytogenetic characterization of the unusually large reindeer (Rangifer tarandus) sex chromosomes is presented for the purpose of studying the evolution of these atypical gonosomes. Sex chromosome idiograms were constructed from G-banded and C-banded chromosomes to illustrate the relative amounts and locations of euchromatin and heterochromatin. Hybridization with a Mazama gouazoubira X whole-chromosome paint revealed that essentially all reindeer X-linked euchromatin and most reindeer Y-linked euchromatin is conserved interspecifically. Subsequently, painting probes were generated from flow-sorted reindeer X chromosomes, flow-sorted reindeer Y chromosomes, and from microdissections of specific gonosomal regions to establish specific segment-to-segment homologies between these gonosomes. In particular, one microdissection-generated paint demonstrated that certain constituent repetitive DNAs, found in C-band region Xq31, were also present in essentially all heterochromatin blocks of the Y chromosome. Microdissection-generated paints from other X-linked heterochromatin blocks revealed the presence of DNA sequences that lacked homologous sequences on the Y chromosomes and were more specific for their region of origin. These characteristics of the reindeer sex chromosomes are consistent with the notion that mammalian sex chromosomes were derived from homologous progenitor chromosome pairs and provide insights into the evolution of these atypical mammalian gonosomes.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. We used multidirectional chromosome painting with probes derived by bivariate fluorescence-activated flow sorting of chromosomes from human, black lemur (Eulemur macaco macaco) and tree shrew (Tupaia belangeri, order Scandentia) to better define the karyological relationship of tree shrews and primates. An assumed close relationship between tree shrews and primates also assists in the reconstruction of the ancestral primate karyotype taking the tree shrew as an ”outgroup” species. The results indicate that T. belangeri has a highly derived karyotype. Tandem fusions or fissions of chromosomal segments seem to be the predominant mechanism in the evolution of this tree shrew karyotype. The 22 human autosomal painting probes delineated 40 different segments, which is in the range found in most mammals analyzed by chromosome painting up to now. There were no reciprocal translocations that would distinguish the karyotype of the tree shrew from an assumed primitive primate karyotype. This karyotype would have included the chromosomal forms 1a, 1b, 2a, 2b, 3/21, 4–11, 12a/22a, 12b/22b, 13, 14/15, 16a, 16b, 17, 18, 19a, 19b, 20 and X and Y and had a diploid chromosome number of 2n=50. Of these forms, chromosomes 1a, 1b, 4, 8, 12a/22a, and 12b/22bmay be common derived characters that would link the tree shrew with primates. To define the exact phylogenetic relationships of the tree shrews and the genomic rearrangements that gave rise to the primates and eventually to humans further chromosome painting in Rodentia, Lagomorpha, Dermoptera and Chiroptera is needed, but many of the landmarks of genomic evolution are now known.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Chromosoma 103 (1995), S. 642-652 
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have used a combination of chromosome sorting, degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), chromosome painting and digital image capturing and processing techniques for comparative chromosome analysis of members of the genus Muntiacus. Chromosome-specific “paints” from a female Indian muntjac were hybridised to the metaphase chromosomes of the Gongshan, Black, and Chinese muntjac by both single and three colour chromosome painting. Karyotypes and idiograms for the Indian, Gongshan, Black and Chinese muntjac were constructed, based on enhanced 4′, 6-diamidino-2-phenylindole (DAPI) banding patterns. The hybridisation signal for each paint was assigned to specific bands or chromosomes for all of the above muntjac species. The interspecific chromosomal homology was demonstrated by the use of both enhanced DAPI banding and comparative chromosome painting. These results provide direct molecular cytogenetic evidence for the tandem fusion theory of the chromosome evolution of muntjac species.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Chromosoma 103 (1995), S. 642-652 
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. We have used a combination of chromosome sorting, degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), chromosome painting and digital image capturing and processing techniques for comparative chromosome analysis of members of the genus Muntiacus. Chromosome-specific ”paints” from a female Indian muntjac were hybridised to the metaphase chromosomes of the Gongshan, Black, and Chinese muntjac by both single and three colour chromosome painting. Karyotypes and idiograms for the Indian, Gongshan, Black and Chinese muntjac were constructed, based on enhanced 4´, 6-diamidino-2-phenylindole (DAPI) banding patterns. The hybridisation signal for each paint was assigned to specific bands or chromosomes for all of the above muntjac species. The interspecific chromosomal homology was demonstrated by the use of both enhanced DAPI banding and comparative chromosome painting. These results provide direct molecular cytogenetic evidence for the tandem fusion theory of the chromosome evolution of muntjac species.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 182 (1958), S. 124-124 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Thyroid tissue cultures offer exceptionally favourable material for the study of nuclear detail. We have used the primary outgrowths from fragments of human thyroid removed at operation, attaching the fragments to coverslips with plasma clot. In such preparations mitoses are rare, and most of the ...
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] In 1949 Barr and Bertram1 described a sexual dimorphism in intermitotic nuclei and suggested that the presence of a sex-chromatin (female nuclear sex) was dependent on the presence of two X-chromo-somes. It has been assumed that the absence of a sex-chromatin (male nuclear sex) as in normal males, ...
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary. Five cases of abnormality in twin pregnancies, detected by ultrasound examination during the second trimester, are reported. In four pregnancies there was a fetal malformation: discordant anencephaly, a monozygotic, heterokaryotypic twin pregnancy with coexistant Turner's syndrome and intrauterine death, concordant body stalk syndrome, and a dicephalus monster. In the other pregnancy one fetus dies in utero to become a fetus papyraceous. Four of the pregnancies were associated with raised levels of maternal serum α-fetoprotein, by singleton standards. Ultrasound examination proved of value in each case. Three pregnancies were terminated.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 80 (1973), S. 0 
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Two acardiac monsters occurring in monozygous diamniotic monochorionic twin pregnancies are described. In one case chromosome analysis of the acardius failed. In the other case fibroblast cultures showed that the acardius had G-trisomy whereas its twin had normal chromosomes. The demonstration of heterokaryotypic monozygosity supports the concept that the acardiac monster is a monozygous twin with a lethal primary defect whose survival in utero is permitted solely by placental anastomoses which allow its normal twin to provide a circulation.
    Type of Medium: Electronic Resource
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