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  • 1
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    A new DNA marker tightly linked to the fragile X locus (FRAXA) (1989)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1989-12-08
    Description: The fragile X syndrome is the most common cause of familial mental retardation. Genetic counseling and gene isolation are hampered by a lack of DNA markers close to the disease locus. Two somatic cell hybrids that each contain a human X chromosome with a breakpoint close to the fragile X locus have been characterized. A new DNA marker (DXS296) lies between the chromosome breakpoints and is the closest marker to the fragile X locus yet reported. The Hunter syndrome gene, which causes iduronate sulfatase deficiency, is located at the X chromosome breakpoint that is distal to this new marker, thus localizing the Hunter gene distal to the fragile X locus.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Suthers, G K -- Callen, D F -- Hyland, V J -- Kozman, H M -- Baker, E -- Eyre, H -- Harper, P S -- Roberts, S H -- Hors-Cayla, M C -- Davies, K E -- New York, N.Y. -- Science. 1989 Dec 8;246(4935):1298-300.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Histopathology, Adelaide Children's Hospital, Australia.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2573953" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Chromosome Mapping ; Female ; Fragile X Syndrome/*genetics ; Genetic Counseling ; *Genetic Linkage ; *Genetic Markers ; Genomic Library ; Humans ; Hybrid Cells ; Likelihood Functions ; Mice ; Mucopolysaccharidosis II/genetics ; Mutation ; Nucleic Acid Hybridization ; Polymorphism, Restriction Fragment Length ; Sex Chromosome Aberrations/*genetics ; Translocation, Genetic
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis (1994)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1994-06-24
    Description: Fragile sites are chemically induced nonstaining gaps in chromosomes. Different fragile sites vary in frequency in the population and in the chemistry of their induction. DNA sequences encompassing and including the rare, autosomal, folate-sensitive fragile site, FRA16A, were isolated by positional cloning. The molecular basis of FRA16A was found to be expansion of a normally polymorphic p(CCG)n repeat. This repeat was adjacent to a CpG island that was methylated in fragile site-expressing individuals. The FRA16A locus in individuals who do not express the fragile site is not a site of DNA methylation (imprinting), which suggests that the methylation associated with fragile sites may be a consequence and not a cause of their genesis.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Nancarrow, J K -- Kremer, E -- Holman, K -- Eyre, H -- Doggett, N A -- Le Paslier, D -- Callen, D F -- Sutherland, G R -- Richards, R I -- New York, N.Y. -- Science. 1994 Jun 24;264(5167):1938-41.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, South Australia.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8009225" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Base Sequence ; Chromosome Fragile Sites ; *Chromosome Fragility ; Chromosomes, Artificial, Yeast ; *Chromosomes, Human, Pair 16 ; Dinucleoside Phosphates/metabolism ; Female ; Fragile X Syndrome/genetics ; Humans ; Male ; Methylation ; Molecular Sequence Data ; Pedigree ; Polymerase Chain Reaction ; Repetitive Sequences, Nucleic Acid
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 3
    Electronic Resource
    Electronic Resource
    Human Satellite III DNA: Genomic location and sequence homogeneity of the TaqI-deficient polymorphic sequences (1989)
    Springer
    Chromosoma 98 (1989), S. 266-272 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Human Satellite III DNA is a major tandem repeat in the human genome and presents a TaqI-specific hypervariable restriction fragment length polymorphism when a Satellite III related sequence (228S) is used as a probe. In situ examination shows this sequence to be near specific for the region 9qh on chromosome 9 when it is used at low probe concentrations. However the region 9qh does not appear to be the only or even the primary source of the TaqI-deficient polymorphic sequences (TDPS). Rather, such sequences appear to be mostly present in chromosomes 20, 21, and 22, and these represent the largest regions of homogeneous Satellite III in the genome; they are also resistant to digestion with a range of other restriction endonucleases. The TDPS do not arise from either of the two currently recognized Satellite III-enriched genomic regions, namely autosomal ‘K-domains’, which form part of 15p in chromosome 15 or the heterochromatin of chromosome Y.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00327312
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  • 4
    Electronic Resource
    Electronic Resource
    Assignment of anonymous DNA probes to specific intervals of human chromosomes 16 and X (1989)
    Springer
    Human genetics 〈Berlin〉 83 (1989), S. 61-66 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Anonymous DNA probes mapping to human chromosome 16 and the distal region of the human X chromosome were isolated from a genomic library constructed using lambda EMBL3 and DNA from a mouse/human hybrid. The hybrid cell contained a der(16)t(X;16)(q26;q24) as the only human chromosome. Fifty clones were isolated using total human DNA as a hybridisation probe. Forty six clones contained single copy DNA in addition to the repetitive DNA. Pre-reassociation with sonicated human DNA was used to map these clones by a combination of Southern blot analysis of a hybrid cell panel containing fragments of chromosomes 16 and X and in situ hybridisation. One clone mapped to 16pter →16p13.11, one clone to 16p13.3→16p13.11, four clones to 16p13.3→16p13.13, two clones to 16p13.13→16p13.11, one clone to 16p13.11, seven clones to 16p13.11→16q12 or 16q13, four clones to 16q12 or 16q13, three clones to 16q13→16q22.1, four clones to 16q22.105→16q24, and nineteen clones to Xq26→Xqter. Two clones mapping to 16p13 detected RFLPs. VK5 (D16S94) detected an MspI RFLP, PIC 0.37. VK20 (D16S96) detected a TaqI RFLP, PIC 0.37 and two MspI RFLPs, PIC 0.30 and 0.50. The adult polycystic kidney disease locus (PKD1) has also been assigned to 16p13. The RFLPs described will be of use for genetic counselling and in the isolation of the PKD1 gene. Similarly, the X clones may be used to isolate RFLPs for genetic counselling and the isolation of genes for the many diseases that map to Xq26→qter.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274150
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  • 5
    Electronic Resource
    Electronic Resource
    The gene for the human IgA Fc receptor maps to 19q13.4 (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 107-108 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The human gene for the receptor for the Fc portion of IgA has been mapped to chromosome 19, more specifically to 19q13.4, by Southern blot analysis of somatic cell hybrids and in situ hybridization.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00207054
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  • 6
    Electronic Resource
    Electronic Resource
    Probe, VK5B, is located in the same interval as the autosomal dominant adult polycystic kidney disease locus, PKD1 (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 286-288 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The polymorphic DNA probe VK5B (D16S94) was mapped by genetic linkage in families from the Centre d'Etude de Polymorphisme Humain (CEPH) as being in the same interval as the autosomal dominant adult polycystic kidney disease locus (PKD1). The maximum likelihood estimate of the genetic location of VK5B using multipoint linkage analysis was 9.6cM proximal to {ie286-01} (D16S85) and 5.4cM distal to CRI-0327 (D16S63), in males. The VK5B probe may be useful in PKD1 families for prenatal and presymptomatic diagnosis of the disease. Additional typing of PKD1 families is required to determine whether the location of VK5B is distal or proximal to (PKD1).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200577
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  • 7
    Electronic Resource
    Electronic Resource
    Interactions between C-bands of chromosomes 1 and 9 in recurrent reproductive loss (1983)
    Springer
    Human genetics 〈Berlin〉 63 (1983), S. 58-62 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The size of the heterochromatic regions of chromosomes 1 and 16 was measured in a Test group of women with histories of recurrent spontaneous abortion and a Control group of fertile women. Measurements were made on Giemsa banded preparations and the euchromatic regions of 1q and 16q were used to correct for between-cell contraction. For each chromosome pair, the larger and smaller chromosome was identified and populations of each were compared between the two subject groups. For chromosome 1, the smaller chromosome of the Test group was significantly smaller than that of the Control group (P〈 0.001) and the size of the pair difference was larger in the Test than in the Control group (P〈 0.01). For chromosome 16, the smaller chromosome of the Test group was smaller than that of the Control group (5% level). The interaction of chromosome 1 and chromosome 9 heterochromatin in each individual has been analyzed. The combined score for the smaller chromosome 1 and the larger chromosome 9 shows a bimodal distribution and allows discrimination between the two subject groups. Various possible ways in which this interaction might affect reproductive outcome are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00285399
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  • 8
    Electronic Resource
    Electronic Resource
    The gene for human interleukin 7 (IL7) is at 8q12-13 (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 371-372 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The gene for human interleukin 7 (IL7) maps to chromosome 8 by Southern analysis of a somatic cell hybrid panel and to 8q12-q13 by in situ hybridization.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274000
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  • 9
    Electronic Resource
    Electronic Resource
    New regional localisations for HAGH and PGP on human chromosome 16 (1986)
    Springer
    Human genetics 〈Berlin〉 74 (1986), S. 423-424 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The chromosomal locations for the electrophoretic markers hydroxyacyl glutathione hydrolase (HAGH) and phosphoglycolate phosphatase (PGP) were examined using a human-mouse hybrid panel of chromosome 16. The assignment for HAGH was confirmed to chromosome 16 using a cell line with chromosome 16 as the only human chromosome. Both HAGH and PGP were present only in cell lines containing human 16p13. This localisation for PGP indirectly places the tightly linked genes for the alpha-globin cluster and adult polycystic kidney disease on 16p13.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00280498
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  • 10
    Electronic Resource
    Electronic Resource
    Localization of the human multiple drug resistance gene, MDR1, to 7q21.1 (1987)
    Springer
    Human genetics 〈Berlin〉 77 (1987), S. 142-144 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Multiple drug resistance has been shown to be associated with amplification/increased expression of a gene designated MDR. The localization of one member of the MDR gene family, MDR1, to the long arm of chromosome 7 by in situ hybridization is reported.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00272381
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