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  • 1
    Electronic Resource
    Electronic Resource
    The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene (1994)
    [s.l.] : Nature Publishing Group
    Nature genetics 7 (1994), S. 541-545 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] The Long–Evans Cinnamon (LEC) rat shows similarity to Wilson disease in many clinical and biochemical features. We have cloned cDNAs for the rat gene (Atp7b) homologous to the human Wilson disease gene (ATP7B) and have used them to identify a partial deletion in the Atp7b gene in the LEC rat. ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0894-541
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  • 2
    Electronic Resource
    Electronic Resource
    The Wilson disease gene: spectrum of mutations and their consequences (1995)
    [s.l.] : Nature Publishing Group
    Nature genetics 9 (1995), S. 210-217 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We have previously reported the cloning of a gene that encodes a copper transporting P–type ATPase (ATP7B) which is defective in Wilson disease. We have now identified in 58 WND patients, 20 new mutations as well as three of five previously published mutations: 11 small insertions and ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0295-210
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  • 3
    Electronic Resource
    Electronic Resource
    Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 (2000)
    [s.l.] : Nature America Inc.
    Nature genetics 25 (2000), S. 397-401 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Isolated human microphthalmia/anophthalmia, a cause of congenital blindness, is a clinically and genetically heterogeneous developmental disorder characterized by a small eye and other ocular abnormalities. Three microphthalmia/anophthalmia loci have been identified, and two others have been ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/78071
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  • 4
    Electronic Resource
    Electronic Resource
    Genes for immunoglobulin heavy chains and for α 1 -antitrypsin are localized to specific regions of chromosome 14q (1982)
    [s.l.] : Nature Publishing Group
    Nature 297 (1982), S. 428-430 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Fig. 1 Chromosomes observed with G-banding. The normal chromosome 14 and r(14) in pro-band of family 1 is shown with the deleted region marked by an arrow. The normal chromosome 14 and inv(14) in family 2 is shown with breakpoints indicated by brackets. The diagram (centre) shows the prometaphase ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/297428a0
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  • 5
    Electronic Resource
    Electronic Resource
    Restriction fragment length polymorphisms associated with immunoglobulin heavy chain gamma genes in Tunisians (1986)
    Springer
    Human genetics 〈Berlin〉 73 (1986), S. 110-113 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary DNA polymorphisms in the human immunoglobulin gamma (γ) region have been studied in random Arabo-Berber Tunisians and in a large Tunisian Berber kindred. Haplotypes have then been designated, based on variation in the BamHI restriction fragments containing the Cγ1, Cγ2, Cγ4, and Cψγ genes. Two new haplotypes, in addition to the four previously described, have been observed. These new haplotypes, designated H5 and H6, were confirmed by family studies. The H5 haplotype was associated with black African Gm haplotypes · (Gm1,17;..;5,6,11 and Gm1,17;..;5,11) (Gma,z;..;blc3bo and Gma,z;..;blbo) and probably represents a common haplotype in the black population. The haplotype H6 may be derived from H5. One of 39 random Tunisians was homozygous for a multigene deletion. DNA polymorphisms of the Cγ genes, in conjuction with Gm markers, provide highly variable genetic markers important for the characterization of human populations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291597
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  • 6
    Electronic Resource
    Electronic Resource
    Deletion/frameshift mutation in the α1 null allele, PI*QObolton (1989)
    Springer
    Human genetics 〈Berlin〉 83 (1989), S. 377-382 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The most common deficiency allele of the protease inhibitor (PI) α1 (α1AT) is PI*Z. Other rare deficiency alleles of α1AT are of two types: those producing low but detectable amounts of α1AT (〈20% of normal serum concentrations), and null alleles producing 〈1% of normal α1AT and therefore not detectable by routine quantitative methods. We have previously used DNA polymorphisms and family data to determine heterozygosity in an individual producing low levels of serum α1AT (12% of normal) of PI type Mmalton. By DNA analysis we observed the typical haplotype associated with PI* Mmalton and a unique null haplotype associated with the allele PI*QObolton. The QObolton allele produces no detectable serum α1AT. We have cloned and sequenced the QObolton allele from a phage genomic library. Deletion of a single cytosine residue near the active site of α1AT in exon V results in a frameshift causing an in-frame stop codon downstream of the deletion. This stop codon leads to premature termination of protein translation at amino acid 373, resulting in a truncated protein. The truncated protein is predicted to have an altered carboxy terminus (amino acids 363-) and will lack structurally important amino acids.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291385
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  • 7
    Electronic Resource
    Electronic Resource
    A multigene deletion in the immunoglobulin heavy chain region in a highly atopic individual (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 643-647 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Highly atopic individuals, with marked allergy, have extremely elevated total plasma IgE levels. To determine if atopy could be associated with structural alterations involving the IGHE gene of the immunoglobulin heavy chain constant region, the genomic DNA from five atopic individuals was examined. We describe here the identification of a deletion of approximately 120kb, including the IGHA1, IGHGP, IGHG2, AGHG4, and IGHE genes of the IGH constant region, in one atopic patient. This deletion arose de novo from a maternally derived chromosome. The deletion, although apparently not the primary cause of the atopic phenotype of this patient, could be indirectly responsible for the phenotype by exposing aberrant immunoglobulin-regulating elements within the paternally derived IGH constant region.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193590
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  • 8
    Electronic Resource
    Electronic Resource
    Defining the breakpoint of a multigene deletion in the immunoglobulin heavy chain gene cluster (1995)
    Springer
    Immunogenetics 41 (1995), S. 69-73 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The constant region of the human immunoglobulin heavy chain (IGHC) is encoded by a cluster of genes near the telomere of chromosome 14q. Deletions and duplications of single or multiple genes in the cluster have been identified, but little information about the breakpoint junctions has been available, in part due to the high degree of sequence similarity between the genes in this region. We report an intensive study of a homozygous deletion, using Southern hybridization and polymerase chain reaction techniques. We found that the deleted DNA includes the functional epsilon gene, and that the breakpoints are located within a 2 kilobase Bam HI/Sac I region of both the IGHEP1 and IGHE genes. These results revise a previous conclusion regarding the deleted region. Definition of breakpoints occuring within thh cluster may shed light on recombination mechanisms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00182315
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  • 9
    Electronic Resource
    Electronic Resource
    The immunoglobulin heavy chain and disease association: application to pemphigus vulgaris (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 675-683 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Genes involved in the immune response are generally encoded from a complex cluster of gene segments. Studies of the association of diseases with such genes require well-defined genetic markers throughout the selected region. A set of 15 polymorphic loci that span 1500 kb of the immunoglobulin heavy chain (IGH) complex, 8 in the variable (VH) region and 7 in the constant (CH) region, were selected for the study of disease association. We present a protocol for the use of multiple immunoglobulin heavy chain (IGH) polymorphisms for general application in disease association studies. No microsatellite repeat markers are available for this region. To demonstrate the applicability of this approach, we have examined these IGH polymorphisms in families with individuals affected with pemphigus vulgaris (PV), an autoimmune dermatologie disease. Allele frequencies in 12 patients with PV were compared with those found in their spouses, and with those in a white Canadian control population. A significant difference was found between PV patients and both control groups for the presence of the VH gene VH3f-R4, and possibly for the absence of VH3f-R3, suggesting the possibility of susceptibility factors in these regions. Examination of the frequencies of the IGH region Cγ-haplotypes of PV patients indicated that, while the patients did not differ significantly from their spouses (χ2=1.79), both groups were found to differ significantly from the white Canadian control group (χ2=10.10), emphasizing the importance of matching the ethnic background of controls with that of the patient test group in disease association studies. Unexpectedly, two patients had large deletions of genes in the IGH constant region, which could play a role in the development of PV and require further investigation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00206963
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  • 10
    Electronic Resource
    Electronic Resource
    Molecular analysis redefines three human chromosome 14 deletions (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 495-500 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have used a panel of 13 DNA markers in the distal region of chromosome 14q to characterize deletions in three patients determined cytogenetically to have a ring or terminally deleted chromosome 14. We have characterized one patient with a ring chromosome 14 [r (14) (p13q32.33)] and two with terminal deletions [del (14) (pter→q32.3:)]. The two patients with cytogenetically identical terminal deletions of chromosome 14 were found to differ markedly when characterized with molecular markers. In one patient, none of the markers tested were deleted, indicating that the apparent terminal deletion is actually due to either an undetected interstitial deletion or a cryptic translocation event. In the other patient, the deletion was consistent with the cytogenetic observations. The deleted chromosome was shown to be of paternal origin. The long-arm breakpoint of the ring chromosome was mapped to within a 350-kb region of the immunoglobulin heavy chain gene cluster (IGH). This breakpoint was used to localize markers D14S20 and D14S23, previously thought to lie distal to IGH, to a more proximal location. The ring chromosome represents the smallest region of distal monosomy 14q yet reported.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00223859
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