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  • 1
    Electronic Resource
    Electronic Resource
    New distal marker closely linked to the fragile X locus (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 369-372 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have isolated II-10, a new X-chromosomal probe that identifies a highly informative two-allele TaqI restriction fragment length polymorphism at locus DXS466. Using somatic cell hybrids containing distinct portions of the long arm of the X chromosome, we could localize DXS466 between DXS296 and DXS304, both of which are closely linked distal markers for fragile X. This regional localization was supported by the analysis, in fragile X families, of recombination events between these three loci, the fragile X locus and locus DXS52, the latter being located at a more distal position. DXS466 is closely linked to the fragile X locus with a peak lod score of 7.79 at a recombination fraction of 0.02. Heterozygosity of DXS466 is approximately 50%. Its close proximity and relatively high informativity make DXS466 a valuable new diagnostic DNA marker for fragile X.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200922
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  • 2
    Electronic Resource
    Electronic Resource
    Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13 (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 509-510 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary DNA markers YNZ22.1, YNH37.3, 144D6 and VAW508 were studied in a patient with the isolated lissencephaly sequence (ILS). A normal karyotype was found in the patient. The DNA of the patient showed deletions of markers YNZ22.1 and YNH37.3. This is the first report of a case of ILS (with grade 3 lissencephaly) with a submicroscopic deletion. The presence of a micro deletion in 17p13 in an ILS patient indicates that Miller-Dieker syndrome and ILS have a common etiology.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197179
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  • 3
    Electronic Resource
    Electronic Resource
    Molecular detection of a translocation (Y;11)(q11.2;q24) in a 45,X male with signs of Jacobsen syndrome (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 661-667 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 45,X karyotype was found in a boy with dysmorphic features, hypoglycaemia and pancytopenia. DNA analysis showed the presence of the Y-chromosomal DNA sequences SRY, ZFY, DYZ4, DYZ3 and DYS1. Using fluorescent in situ hybridization, we located DYZ4 and DYZ3 on chromosome llqter and concluded that a de novo translocation (Y;11)(q11.2;q24) with a deletion of 11q24→qter and a deletion of Yq11.2→Yqter were present; Jacobsen syndrome and azoospermia are associated with these deletions. Signs of Jacobsen syndrome were observed in the patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02265294
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  • 4
    Electronic Resource
    Electronic Resource
    Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 308-311 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract To date, the identification of patients and carriers of the fragile X syndrome has been carried out by DNA analysis by means of the polymerase chain reaction and Southern blot analysis. This direct DNA analysis allows both the size of the CGG repeat and methylation status of the FMR1 gene to be determined. We have recently presented a rapid antibody test on blood smears based on the presence of FMRP, the protein product of the FMR1 gene, in lymphocytes from normal individuals and the absence of FMRP in lymphocytes from patients. Here, we have tested the diagnostic value of this new technique by studying FMRP expression in 173 blood smears from normal individuals and fragile X patients. The diagnostic power of the antibody test is “perfect” for males, whereas the results are less specific for females.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050363
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  • 5
    Electronic Resource
    Electronic Resource
    Cystic fibrosis: screening for a DNA deletion by field inversion gel electrophoresis (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 64-67 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We analyzed DNA of ten cystic fibrosis (CF) patients representing DNA of 19 different CF chromosomes and screened for deletions by means of field inversion gel electrophoresis (FIGE). No differences were detected after digestion of the DNA samples with the restriction enzymes Not I and Sfi I and hybridization with the probes MetH, MetD, J3.11, and 7C22. Thus the percentage of deletions occurring within the CF region and detectable with FIGE is less than 15.2% (95% confidence interval, N=19)
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291712
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  • 6
    Electronic Resource
    Electronic Resource
    Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome (1998)
    Springer
    Human genetics 〈Berlin〉 102 (1998), S. 54-56 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Molecular diagnosis of fragile X syndrome is usually performed using Southern blot analysis of DNA digested with EcoRI. In the course of diagnostic studies, we observed that a specific EcoRI restriction site in the fragile X gene (FMR1) is sometimes refractory to digestion, generating additional fragments on a Southern blot suggestive of a full mutation in FMR1. This may lead to a false-positive diagnosis of fragile X syndrome. Such additional bands are avoided by the use of HindIII instead of EcoRI. Therefore, we recommend the use of HindIII for the molecular diagnosis of fragile X syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050653
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  • 7
    Electronic Resource
    Electronic Resource
    The fragile X syndrome (1997)
    Springer
    Journal of inherited metabolic disease 20 (1997), S. 139-151 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The fragile X syndrome is caused by the amplification of a polymorphic CGG repeat in the 5′ untranslated region of the FMR1 gene and is the most common form of inherited mental retardation. When the repeat is amplified beyond 200 repeat units, the repeat and the FMR1 promoter region are methylated. As a result of this methylation the gene is silenced and no FMR1 gene product (FMRP) is translated. The lack of expression of FMRP in the fragile X syndrome causes the fragile X phenotype. A mouse model for the fragile X syndrome (knockout for FMRP) has been generated to study the pathological mechanisms leading to the symptoms seen in fragile X patients. FMRP is widely expressed in different tissues and localized predominantly in the cytoplasm associated with the 60S ribosomal subunit. The protein has RNA binding properties and possibly shuttles between cytoplasm and nucleus. The target signals necessary for this intracellular transport, like a nuclear location signal and a nuclear export signal, are present in FMRP. FMRP is also able to bind to other proteins by using specific sequence domains present in the protein. The coiled-coil structures formed by these domains are known to be involved in protein-protein interaction. In this review we postulate that FMRP is involved in the transport of RNA and/or proteins from the nucleus to the cytoplasm.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005392319533
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