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  • 1
    Electronic Resource
    Electronic Resource
    Origin of the extra chromosome in trisomy 18 (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 377-378 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The parental origin of an extra chromosome in five patients with trisomy 18 was traced using a restriction fragment length polymorphism (RFLP) of the human prealbumin (PA) gene, localized to 18p11.1–q12.1, as a genetic marker. MspI digests of the genomic DNAs of the five patients, their parents and normal controls were hybridized with the PAcDNA. Densitometric analysis on the gene dose of the polymorphic fragments of these patients revealed that three had originated from a maternal meiotic error. The other two patients were uninformative for the parental origin of trisomy 18. Our results indicate that nondisjunctional errors leading to trisomy 18 may occur predominantly at the maternal meiosis, consistent with the results of previous studies on the parental origin of trisomies 21 and 13.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00282181
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  • 2
    Electronic Resource
    Electronic Resource
    Genomic structure and expression of human guanosine monophosphate reductase (1991)
    Springer
    Human genetics 〈Berlin〉 88 (1991), S. 219-224 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In vitro translation in the rabbit reticulocyte system and transient expression in Cos7 cells were performed to characterize the protein encoded by a chromosome 6-linked human cDNA clone, whose nucleotide sequence is homologous to that of Escherichia coli guanosine monophosphate reductase (GMP reductase) cDNA. The molecular weight of the peptide produced by the cDNA was about 37,000 Dalton, and the protein produced in the Cos7 cells exhibited GMP reductase activity, substantiating that the cDNA is for human GMP reductase. The corresponding genomic clones were obtained from two human genomic libraries. The gene spans about 50 Kb and is composed of 9 exons, which encode 345 amino acid residues. Organization of exons and introns was established by DNA sequencing of each exon and splicing junctions. The gene contains two potential SpI binding sites within exon 1, and a functional atypical polyadenylation signal in exon 9.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00206076
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  • 3
    Electronic Resource
    Electronic Resource
    Identification of common variant alleles of the human guanosine monophosphate reductase gene (1991)
    Springer
    Human genetics 〈Berlin〉 88 (1991), S. 225-227 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Examination of nucleotide sequences of genomic DNA samples obtained from several unrelated Caucasians and orientals revealed the existence of four variant alleles in the chromosome 6-linked quanosine monophosphate reductase locus. The wild-type gene has T at position 42 (counting from A of the chain initiation codon), C at 630, G at 700, and T at 766, i.e., its structure is T(42)-C(630)-G(700)-T(766). The variant gene, T-T-G-T, was found in about 10% of the loci examined. The C-to-T change at 630 was silent and did not induce any amino acid substitution (His at amino acid residue 210), but it created an additional NcoI cleavage site in the variant gene. The frequency of another variant, the T-C-G-A gene, was about 30%. The T-to-A change at 766 caused an amino acid substitution Phe→Ile at amino acid residue 256 in the variant protein. Frequencies of the C-C-G-T variant and the T-C-A-T variant were probably lower than 5% in Caucasians and orientals.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00206077
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  • 4
    Electronic Resource
    Electronic Resource
    Haploinsufficiency of NSD1 causes Sotos syndrome (2002)
    [s.l.] : Nature Publishing Group
    Nature genetics 30 (2002), S. 365-366 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng863
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  • 5
    Electronic Resource
    Electronic Resource
    Micro extraction of DNA from whole blood and amniocytes (1989)
    Springer
    Journal of human genetics 34 (1989), S. 217-223 
    Details
    ISSN: 1435-232X
    Keywords: micro DNA extraction ; blotted blood method ; gel-block method ; DNA-based prenatal/neonatal diagnosis of genetic disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We describe methods for extracting genomic DNA from a small amount of whole blood or cultured amniocytes. Nuclear DNA was extracted from whole blood spotted on blotting paper. Relatively large molecules of DNA with the average amount of 7–9 μg was extracted from 1 ml of blood spotted and stored for at most two years, being roughly 1/3 of that extracted directly from fresh whole blood. The estimated minimum amount of whole blood that gives a suitable autoradiogram of Southern hybridization was 0.3 ml. Another series of amounts of whole blood or an amniocyte suspension were molded in low-melting agarose into an 100 μl gel block. The DNA extracted from a block that was made from at least 0.25 ml of whole blood, or from 1.25×105 amniocytes (equivalent to 1/8 of the number of confluent cells in a 25 cm2 culture flask) resulted in one suitable Southern analysis. Both methods described here are applicable to the diagnosis of newborns and/or fetuses at risk of a genetic disease and to the diagnosis of a patient from whom a large amount of blood material is difficult to obtain. These methods also make a long-way transportation of the materials possible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01900724
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  • 6
    Electronic Resource
    Electronic Resource
    New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome (1998)
    Springer
    Journal of human genetics 43 (1998), S. 59-61 
    Details
    ISSN: 1435-232X
    Keywords: Key words Coffin-Lowry syndrome ; Multiple perivascular space ; Magnetic resonance imaging (MRI) ; Mucopolysaccharidosis ; Perivascular leukomalacia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We used magnetic resonance imaging (MRI) to examine the brain of a typical Coffin-Lowry syndrome (CLS) patient. There were many small perivascular focal areas of hypointensity in the white matter on T1-weighted images, similar to those found in mucopolysaccharidosis or perivascu-lar leukomalacia. However, these changes could not seen in another patient we examined. Both patients showed normal urinary mucopolysaccharide patterns with chromatographic analysis. The cause of the MRI result is not known, but it could have a heterogeneous origin, and this result could represent an important indication defining one type of CLS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050038
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  • 7
    Electronic Resource
    Electronic Resource
    Satellited chromosome 9 in a boy with multiple anomalies (1989)
    Springer
    Journal of human genetics 34 (1989), S. 297-305 
    Details
    ISSN: 1435-232X
    Keywords: satellited chromosome 9 ; unbalanced translocation ; Williams syndrome ; argininosuccinate synthetase gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 5-year-old boy with multiple congenital anomalies showed a satellited long-arm chromosome 9, a previously undescribed abnormality. Various banding analyses of his chromosomes and those of his parents indicated that a reciprocal translocation, t(9;22)(q34.3;q11.21), occurred in the father's gonad, and one of the translocation chromosomes was then transmitted to the patient. Thus, the patient's karyotype was interpreted as 46,XY,-9,+psudic(9),t(9;22)(q34.3;q11.21). He showed several features similar to those of the Williams syndrome. The gene(s) responsible for the syndrome thus could be at either 9q34.3-qter or 22pter-q11.2. Southern blot analysis of the patient's DNA indicated the presence of two copies of the argininosuccinate synthetase gene which had been assigned to 9q34.1-qter. In view of the fact that the 9q34.3-qter segment is monosomic in the patient, the gene locus was deduced to be at 9q34.1-q34.2 segment.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01929212
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  • 8
    Electronic Resource
    Electronic Resource
    A point mutation at ATP-binding region of the ALD gene in a family with X-linked adrenoleukodystrophy (1994)
    Springer
    Journal of human genetics 39 (1994), S. 345-351 
    Details
    ISSN: 1435-232X
    Keywords: X-linked adrenoleukodystrophy ; prenatal diagnosis ; point mutation ; ATP-binding site
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A prenatal diagnosis was performed in a family with X-linked adrenoleukodystrophy (ALD). A fetus was at high risk of suffering the disease by segregation analysis and by very long chain fatty acid-CoA synthetase activity assay. A transition (G to A) at codon 617 of the candidate ALD gene was detected by reverse transcription PCR (RT-PCR) based sequencing of the fetal liver RNA. The mutation was located in highly conserved ATP-binding site in this gene and deduced amino acid transversion R617H was thought to be the cause of ALD in this family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01874053
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  • 9
    Electronic Resource
    Electronic Resource
    Localization of the human prealbumin gene to 18p11.1-q12.3 by gene dose effect study of Southern blot hybridization (1986)
    Springer
    Journal of human genetics 31 (1986), S. 243-248 
    Details
    ISSN: 1435-232X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The human prealbumin gene was tried to map by the analysis of gene dose effects on Southern hybridization bands of various chromosome 18 abnormalities. The32P-labeled probe “pPA1” which contains the prealbumin cDNA hybridized to an 11 kb and a 4.6 kbHind III-fragments from cells each of which has a different chromosome 18 constitution. Autoradiograms (hybridization bands) for pseudodicentric 18 (trisomy of almost whole of a chromosome 18) showed 1.5-fold density compared with those of the normal diploid. Autoradiograms for trisomy for 18q21.3-qter and monosomies for 18p11.2-pter and for 18q21.1-q21.3 were all not different in density from those of the diploid control. Our results provide evidence for regional assignment of this gene to 18p11.1-q12.3, most likely to cen-q12.3.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01870754
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  • 10
    Electronic Resource
    Electronic Resource
    A severe case of Moebius syndrome with calcification on the fourth ventricular floor (1998)
    Springer
    Journal of human genetics 43 (1998), S. 62-64 
    Details
    ISSN: 1435-232X
    Keywords: Key words Moebius syndrome ; Calcification ; Arthrogryposis multiplex congenita ; Blood supply disturbance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We report the case of a Japanese girl with a severe type of Moebius syndrome. Her morphological features were a mask-like face, limitation of horizontal eye movements, severe bulbar palsy, multiple and bilateral arthrogryposis including the elbow, knee, and ankle joints, and clubfeet. After birth, her general condition became worse because of repeated apneic spells and aspiration pneumonias due to dysphagia. She finally required tracheotomy. Computed tomography (CT) of the brain revealed minute calcifications on the fourth ventricle floor; this may have been due to severe damage to the brain stem. It is most likely that the various manifestations in our patient were due to disturbance of the blood supply to arteries perfusing the brain stem and to some other arteries, at a critical stage of fetal development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050039
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