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  • 1
    Electronic Resource
    Electronic Resource
    Physical mapping of chromosome 3p25-p26 by flourescence in situ hybridisation (FISH) (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 18-22 
    Details
    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
    URL: http://dx.doi.org/10.1007/BF00216139
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  • 2
    Electronic Resource
    Electronic Resource
    Assignment of the gene for dyskeratosis congenita to Xq28 (1986)
    Springer
    Human genetics 〈Berlin〉 72 (1986), S. 348-351 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Dyskeratosis congenita is an X-linked recessive disorder with diagnostic dermatological features, bone marrow hypofunction, and a predisposition to neoplasia in early adult life. Linkage analysis was undertaken in an extensive family with the condition using the Xg blood group and 17 cloned X chromosomal DNA sequences which recognise restriction fragment length polymorphisms (RFLPs). No recombination was observed between the locus for dyskeratosis congenita (DKC) and the RFLPs identified by DXS52 (St 14-1) (Zmax=3.33 at Θmax=0 with 95% confidence limits of 0 to 14 cM). Similarly no recombination was observed for the disease locus and F8 (Zmax=1.23 at Θmax=0) nor for DXS15 (Zmax=1.62 at Ήmax=0), but both of these markers were only informative in part of the family whereas DXS52 was fully informative. DXS52, DXS15, and F8 are known to be tightly linked and have previously been assigned to Xq28. Thus the gene for dyskeratosis congenita can be assigned to Xq28. These DNA sequence polymorphisms will be of clinical value for carrier detection and prenatal diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00290963
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  • 3
    Electronic Resource
    Electronic Resource
    Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination (1990)
    Springer
    Human genetics 〈Berlin〉 84 (1990), S. 198-202 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Clinical, chromosomal and molecular studies of a group of 15 XX males confirm the presence of two main groups. A Y+ve group of ten patients exhibit sex reversal as the result of transfer of the distal end of the short arm of the Y chromosome, including testis determining factors, to the short arm of one X-chromosome, presumably by accidental crossing-over in paternal meiosis. The ten patients have Klinefelter's syndrome but differ from XXY cases in that they are short and shown no impairment of intelligence. The four Y-ve XX males have no demonstrable Y sequences and differ from Y+ve cases in abnormality of the external genitalia and invariable gynaecomastia; in this, they more closely resemble XX true hermaphrodites than XY males. These observations on Y-ve XX males and an additional exceptional Y+ patient suggest that the ZFY locus is not essential for male differentiation and is not the primary testis determining factor. Male sex determination in sporadic, and familial Y-ve XX males and true hermaphrodites is likely to be the result of mutation in an X-linked TDF gene and its consequent escape from the constraints of X-inactivation. It seems premature to abandon the dosage model of sex determination on the recent evidence that ZFX does not show dosage compensation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00208942
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  • 4
    Electronic Resource
    Electronic Resource
    X Chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis) (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 49-52 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The X chromosomes of individuals with isolated steroid sulphatase deficiency (X-linked ichthyosis) from ten families were studied by flow karyotype analysis. In four of the families, a small but significant reduction in the relative fluorescence of the X chromosome was detected consistent with a deletion ranging from 1.2%–3.4% of the X and amounting to a DNA loss of 1.9–5.2 million base pairs. In the remaining six families, three of which demonstrated a molecular deletion of the DNA sequence GMGX9 (DXS237), the relative fluorescence of the X chromosomes was indistinguishable from normal. The phenotypes of those with X deletions detectable by flow cytometry were similar to those of patients without such deletions.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291709
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  • 5
    Electronic Resource
    Electronic Resource
    Multipoint linkage analysis of the short arm of the human X chromosome in families with X-linked muscular dystrophy (1985)
    Springer
    Human genetics 〈Berlin〉 70 (1985), S. 365-375 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Sixteen three generation families from the West of Scotland with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) have been studied using the Xg blood group and seven cloned DNA sequences which recognise DNA polymorphisms on the short arm of the X chromosome (Xp). Linkage has been established between DMD and probe 754 with a maximum lod score (Ž) of 4.47 at a recombination fraction ( $$\hat \theta$$ ) of 0.04. DMD has also been linked to probe 99-6 (Ž=3.75, $$\hat \theta$$ =0.03). Combining the data in this study with that of previously published work has established linkage between DMD and L1.28 (Ž=4.42, $$\hat \theta$$ =0.17) and altered the linkage estimate between BMD and L1.28 (Ž=3.50, $$\hat \theta$$ =0.22). An approximate order for the loci has been deduced by the study of recombinant chromosomes in phase known families informative for three or more loci. The proposed order is centromere-L1.28-754-DMD/BMD-99-6-D2-782-Xg. These results conclusively map both DMD and BMD to the central region of Xp and add weight to the original suggestion that they may be allelic.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295379
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  • 6
    Electronic Resource
    Electronic Resource
    A rearrangement on Chromosome 5 of an expressed human β-glucuronidase pseudogene (1994)
    Springer
    Mammalian genome 5 (1994), S. 791-796 
    Details
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A novel transcript containing homology to exons 5, 9, 10, and 11 of the β-glucuronidase gene has been shown to be derived from Chromosome (Chr) 5. In situ hybridization analysis has shown that this transcript is homologous to four loci on Chr 5 (5p13.3, 5p15.1, 5q13.1, and 5q15), two loci on Chr 6 (6p11.2 and 6p21.3), and one on Chr 22 at 22q11.2. Analysis of cosmid clones from Chr 5 has defined three distinct contigs in which there are tandem genomic repeats of a unit containing sequences homologous to exons 5, 9, and 10 but not 11. Pulsed-field gel electrophoresis (PFGE) analysis has shown that the length of these repeats is highly variable between unrelated individuals, indicating that these regions of Chr 5 are prone to rearrangement. These sequences may be important with respect to stability around the Chr 5 centromere.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292015
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