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  • 1
    Electronic Resource
    Electronic Resource
    Highly polymorphic dinucleotide repeat at the NF2 gene (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 712-712 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A highly polymorphic CA repeat was identified in a cosmid containing the 5′ end of the NF2 tumour suppressor gene. This marker has proved useful in presymptomatic diagnosis in affected families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00209494
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    An HLA-C-specific DNA probe (1986)
    Springer
    Immunogenetics 23 (1986), S. 115-120 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Analysis of available nucleotide sequence data for class I HLA genes has established that the seventh intron is one of the gene regions which expresses the highest degree of locus specificity (the percentage sequence divergence between nonallelic genes minus the percentage sequence divergence between allelic genes). We have subcloned short DNA sequences including this region from the HLA-Cw3 gene. Two clones, pC250 and pC800, were tested by hybridizing them at high stringency to a panel of clones containing class I HLA genes. Under conditions permitting a strong hybridization signal with a C-locus gene, pC800 also expressed a weak but significant hybridization to other class I genes, while pC250 appeared to hybridize exclusively to the C-locus gene. Hybridization of the pC250 probe at high stringency to Hind III-digested genomic DNA from a panel of unrelated individuals and homozygous typing cell lines revealed a single band in all cases. However, equivalent hybridization against Eco RI-digested DNA revealed two hybridization bands, one at 7.9 kb which correlated with the serologically defined Cw5 and Cw8 alleles, and one at 7.6 kb which correlated with the Cw1, Cw2, Cw3, Cw4, Cw6, and Cw7 alleles.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00377971
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Restriction fragment length polymorphism at the HLA-C locus (1987)
    Springer
    Immunogenetics 25 (1987), S. 179-183 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have used the HLA-C-specific DNA probe pC250 to investigate restriction fragment length polymorphism (RFLP) at the HLA-C locus. Genomic Southern blot hybridization included DNA prepared from a panel of homozygous typing cells representing serological specificities Cw1 to Cw8 and also from samples representing Cw blanks. Although many restriction nucleases failed to reveal any polymorphism, RFLPs were evident with Taq I, Pvu II, Bst XI, Nde 1, and Nci I in addition to the previously reported Eco RI. In the case of Bst XI, a unique RFLP defined a subset of serologically defined Cw blanks. Comparison of RFLP sizes with restriction fragment lengths obtained from the known HLA-Cw3 gene sequence permitted the localization of intragenic C locus RFLLs and the identification of a variable Taq I site in the second intron, a variable Nci I site near the end of the fourth exon, and a variable Pvu lI site in the fifth intron.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00344032
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  • 4
    Electronic Resource
    Electronic Resource
    Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 361-366 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have analysed fifteen classical 21-hydroxylase deficiency families from throughout Southern Ireland and report the serologically defined HLA-A, HLA-B, HLA-Cw, HLA-DR, C4A and C4B polymorphisms that characterize the inferred disease haplotypes. Additionally, we have used a combination of short and long range restriction mapping procedures in order to characterize the CYP21/C4 gene organization associated with individual serologically defined haplotypes. The results obtained indicate that disease haplotypes are characterized by a high frequency (33%) of CYP21B gene deletion and 8 out of 10 such deletion haplotypes are represented by the extended haplotype HLA-DR1, C4BQo, C4A3, HLA-B40(w60), HLA-Cw3, HLA-A3. Large scale length polymorphism in the CYP21/C4 gene cluster was found to conform strictly to a variable number of tandem repeats model with 4 alleles being detected. Disease haplotypes in which defective CYP21B gene expression is inferred to result from pathological point mutations show extensive diversity of associated HLA markers and include two examples of the extended HLA haplotype HLA-DR3, B8, Cw7, A1 haplotype, which has previously been reported to be negatively associated with 21-hydroxylase deficiency. One unusual disease haplotype has two CYP21 + C4 units, both of which appear to contain CYP21B-like genes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200920
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  • 5
    Electronic Resource
    Electronic Resource
    Eleven novel mutations in the NF2 tumour suppressor gene (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 572-574 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Eleven novel mutations were identified in the NF2 tumour suppressor gene in a panel of British NF2 patients. Screening was performed using a combination of heteroduplex and single-strand conformation polymorphism analysis on polymerase chain reaction amplified material.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00223872
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  • 6
    Electronic Resource
    Electronic Resource
    CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 545-551 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A total of 33 Italian 21-hydroxylase (21-OH) deficiency families were investigated using a combination of short and long range restriction mapping of the CYP21/C4 gene cluster. The analyses revealed that large-scale length polymorphism in this gene cluster strictly conformed to a compound variable number of tandem repeats (VNTR) plus insertion system with between one and four CYP21 + C4 units and seven BssHII restriction fragment length polymorphisms (RFLPs) (75kb, 80kb, 105kb, 110kb, 135kb, 140kb and 180kb). A total of 9/66 disease haplotypes, but only 1/61 nondisease haplotypes, showed evidence of gene addition by exhibiting three or more CYP21 + C4 repeat units. Of these, two were identified in one 21-OH deficiency patient who has a total of eight CYP21 + C4 units, being homozygous for the HLA haplotype DR2 DQ2 B5 A28. This haplotype carries four CYP21 + C4 units, three of which contain CYP21A-like genes and one of which contains a CYP21B-like gene that presumably carries a pathological point mutation. Of the other gene addition haplotypes associated with 21-OH deficiency, four show three CYP21 + C4 units flanked by HLA-DR1 and HLA-B14 markers. Although such haplotypes have commonly been associated with non-classical 21-OH deficiency, three examples in the present study are unexpectedly found in two salt-wasting patients, who are respectively homozygous or heterozygous for this haplotype. Only 7/66 disease haplotypes showed evidence of a CYP21B gene deletion.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00219342
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  • 7
    Electronic Resource
    Electronic Resource
    The HLA-AW24 gene: Sequence, surroundings and comparison with the HLA-A2 and HLA-A3 genes (1985)
    Springer
    Immunogenetics 21 (1985), S. 479-489 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A cosmid clone containing two class I sequences was found to cause expression of the HLA-AW24 protein after transfection into mouse L cells. The restriction map of this cosmid shows extensive homology over 26 kb with the map of the HLA-A3 region obtained from cosmids of the same library, constructed with DNA from an HLA-A3/HLA-AW24 heterozygote, but diverges over the remaining 14 kb. The HLA-AW24 gene was subcloned from this cosmid and its nucleotide sequence was determined. Amino acid and, more strikingly, nucleotide sequence comparisons with other HLA alleles indicate that the A locus alleles are more closely related to each other than to alleles from other HLA loci. A very skewed distribution of silent substitutions is apparent, and the occurrence of clustered multiple substitutions hints at gene-conversion-like events.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00430931
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  • 8
    Electronic Resource
    Electronic Resource
    Molecular analysis of the human MHC class I region in hereditary haemochromatosis (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 531-536 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The unknown allele that predisposes to the development of haemochromatosis in man has been localized to the HLA class I region on the short arm of chromosome 6. We have utilized pulsed-field gel electrophoresis in conjunction with probes that map within, or in the vicinity of, this region to search for structural lesions that may further define the disease locus. Using the enzyme Mlu I, fragments that associated specifically with the HLA-A23, A31 and B8 alleles were identified. However, in members of three pedigrees affected by haemochromatosis, and in six unrelated patients with the disorder, no disease-specific differences were detected in the DNA fragments with four restriction enzymes and eight probes when compared with healthy individuals. These data suggest that the lesion responsible for hereditary haemochromatosis lies beyond the resolution of this technique and does not involve large structural deletions or extensive re-arrangements in this highly polymorphic region of the genome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00194232
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    Paper (German National Licenses)
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  • 9
    Electronic Resource
    Electronic Resource
    A de novo pathological point mutation at the 21–hydroxylase locus: implications for gene conversion in the human genome (1993)
    [s.l.] : Nature Publishing Group
    Nature genetics 3 (1993), S. 260-265 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] More than two hundred characterized 21–hydroxylase deficiency alleles appear to result exclusively from sequence exchanges involving the 21–hydroxylase gene (CYP21B) and a closely related pseudogene (CYP21A). Gene conversion–like events have also been reported in many other human ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0393-260
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  • 10
    Electronic Resource
    Electronic Resource
    NIPBL , encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome (2004)
    [s.l.] : Nature Publishing Group
    Nature genetics 36 (2004), S. 636-641 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by dysmorphic facial features, mental retardation, growth delay and limb reduction defects. We indentified and characterized a new gene, NIPBL, that is mutated in individuals with CdLS and determined its structure ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1363
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