Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
Filter
Collection
  • 1
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Eukaryotic telomeres are specialized DNA-protein structures that are thought to ensure chromosomal stability and complete replication of the chromosome ends. All telomeres which have been studied consist of a tandem array of G-rich repeats which seem to be sufficient for telomere function. Originally, the human telomeric repeat (TTAGGG)n was assumed to be exclusively located at the very end of all human chromosomes. More recent evidence, however, suggests an extension into proterminal regions. Very little is known about the interstitial distribution of telomeric repeats. Here we present evidence for the presence of (TTAGGG)n repeats in internal loci on the long and short arms of different human chromosomes. In addition, we studied the genomic organization of these repeats in more detail and discuss possible functions of interstitial telomeric repeats in the human genome.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird eine Technik beschrieben, die folgende Schritte enthält: 1.Differentielle Denaturierung von DNA an den Chromosomenarmen mit Na-Hydroxid, das Formalin enthält (NaOH-F). 2. Färbung mit Acridin-Orange. Die NaOH-F-Technik ergibt Chromosomen mit rot, gelb, braun und grün gefärbten Banden, die bei Schwarzweißphotographie als negative Q-Banden erscheinen. Das wird durch Densitometrie bestätigt — mit Ausnahme einiger Zentromerregionen und der Sekundärkonstruktionen auf den Chromosomen 1, 9, 16. Untersuchungen an gealterten Präparaten zeigen, daß spontane Denaturierung bei Zimmertemperatur auftritt. Präparate, die 2–3 Wochen bei Zimmertemperatur aufbewahrt wurden, geben mit der NaOH-F/AO-Technik optimale Resultate. Trypsin-Vorbehandlung beeinflußt das Bandmuster nicht. Die NaOH-F/AO-Technik hat die folgenden Vorteile: 1. Sie färbt die Chromosomenenden klarer als Quinacrin; die Nüzlichkeit dieser Eigenschaft wird durch densitometrische Bestimmungen verschiedener Chromosomen-Rearrangements bewiesen. 2. Sie kann zusammen mit anderen Bandentechniken an der gleichen Zelle verwertet werden; so umgeht man Schwierigkeiten, die bei Vergleich von Ergebnissen an verschiedenen Zelltypen auftreten.
    Notes: Summary A technique is described in detail for 1. differentially denaturing DNA along chromosome arms with sodium hydroxide containing formalin (NaOH-F) and 2. staining with acridine orange (AO). The NaOH-F/AO technique results in chromosomes with red, yellow, brown and green colored bands which, when photographed in black and white, appear to be the reverse of Q bands. Densitometry tracings of these patterns confirm them to be the reverse of Q bands with the exception of some centromeric regions and the secondary constrictions on chromosomes 1, 9 and 16. Studies on the age of slides indicate that spontaneous denaturation occurs at room temperature. Slides aged 2–3 weeks at room temperature give optimal results with the NaOH-F/AO technique. Trypsin treatment prior to NaOH-F/AO does not affect the resultant banding pattern. The NaOH-F/AO technique is useful because 1. it tends to stain the ends of chromosomes more clearly than does quinacrine — the utility of this feature is demonstrated by densitometry tracings of various chromosome rearrangements and 2. it can be used in sequence with other chromosome banding techniques on the same cell and so circumvents problems in the comparison of results obtained with different cells.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q-syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most distal band of the long arm (13q34) and possible partial loss of the next adjacent long arm band (13q33). The short arm (13q11) was present but the stalk (13p12) and satellite (13p13) regions appeared to be missing.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 60 (1982), S. 267-270 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two brothers with a distal 19q duplication due to a maternal balanced reciprocal translocation were observed. Clinical features included intrauterine and postnatal growth retardation, microcephaly, and mental retardation with seizures. Dysmorphic facies consisted of coarse hair with a high frontal hairline, short philtrum and nose, flat nasal root, and a broad mouth with downturned commissures. Both routine G-banded and high-resolution prometaphase chromosome studies were employed in evaluation of the family. The dysmorphic features and karyotypes of the affected brothers are compared with those of the two previously reported families with 19q duplication, and a common distal-19q phenotypes is suggested.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Chromosome preparations from four subjects, one normal 46,XY male and three patients with different rearrangements of chromosome 11:46,XX,del(11)(p11.2→p15.1), 46,XY,inv(11)(p13q24.2), and 46,XY,rec(11)inv(11)(p13q24.2) pat, were utilized for in situ hybridization studies with a tritium-labeled cDNA probe containing a β-globin insert. Using the hybridization technique described by Harper and Saunders (1981), there were 1–2 grains over each labeled metaphase. Of 360 cells scored, 88 were labeled over chromosome 11, band p15 (24%). Approximately half of the chromosome 11s labeled from the abnormal patients were the del(11) or inv(11). These results exclude the β-globin locus from 11p11→p14, since these bands were not present in the recent 11, and assign it to 11p15. This is in agreement with the recent exclusion data of de Martiville and Francke (1984) and Junien (1984), and suggestive assignment data of Morton et al. (1984).
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 6
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Tyrosinemia II is an autosomal-recessively inherited condition caused by deficiency in the liver-specific enzyme tyrosine aminotransferase (TAT; EC 2.6.1.5). We have restudied a patient with typical symptoms of tyrosinemia II who in addition suffers from multiple congenital anomalies including severe mental retardation. Southern blot analysis using a human TAT cDNA probe revealed a complete deletion of both TAT alleles in the patient. Molecular and cytogenetic analysis of the patient and his family showed one deletion to be maternally inherited, extending over at least 27 kb and including the complete TAT structural gene, whereas loss of the second TAT allele results from a small de novo interstitial deletion, del 16 (pter→q22.1::q22.3→qter), in the paternally inherited chromosome 16. Three additional loci previously assigned to 16q22 were studied in our patient: haptoglobin (HP), lecithin: cholesterol acyltransferase (LCAT), and the metallothionein gene cluster MT1, MT2. Of these three markers, only the HP locus was found to be codeleted with the TAT locus on the del(16) chromosome.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 7
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Chromosome preparations from seven subjects with aberrations of sex chromosomes were utilized for in situ hybridization studies with the tritium-labeled Y-derived probe p50f. Two subjects had a pseudodicentric chromosome consisting of two copies of Yp and a portion of Y long arm; two were XX males [46,XX,t(Xp;Yp)], one was missing part of the Y short arm, and another had t(5p;Yq); in addition cells from an XYY male as well as a normal 46,XY male, and a 46,XX female, were hybridized with the same probe. The hybridization technique of Harper and Saunders (1981) was used. There was excess labeling of the Yp/paracentromeric regions in the cases with the normal Y, the XYY, the pseudodicentric Y, and the 5/Y translocation. No significant label was seen on metaphases from the normal 46,XX female or the female with the partially missing Y short arm. Excess label was present on the X short arm in the cases of the XX males; there were 8% and 9.5% of cells with label. The combined cytogenetic and hybridization data indicate that one X short arm in these XX males has undergone a translocation with Yp, and that genes for sex determination probably reside on the distal half of the Y short arm.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 8
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The Giemsa-11 technique specifically stains the secondary constriction region of chromosome 9. We report cytologic evidence for 9p trisomy in a 4 $$4{\raise0.5ex\hbox{$\scriptstyle 1$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle 2$}}$$ -year-old girl with moderate retardation and multiple anomalies, using the Giemsa-11 technique.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 9
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin genePMP22. Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities, absent reflexes, and the completely penetrant electrophysiologic phenotype of symmetric reductions in motor nerve conduction velocities (NCVs). Molecular and fluorescence in situ hybridization (FISH) analyses were performed to determine the duplication status of thePMP22 gene in four patients with rare cytogenetic duplications of 17p. Neuropathologic features of CMT1A were seen in two of these four patients, in addition to the complex phenotype associated with 17p partial trisomy. Our findings show that the CMT1A phenotype of reduced NCV is specifically associated withPMP22 gene duplication, thus providing further support for thePMP22 gene dosage mechanism for CMT1A.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
  • 10
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Autosomal dominant Charcot-Marie-Tooth type-1A neuropathy (CMT1A) is a demyelinating peripheral nerve disorder that is commonly associated with a submicroscopic tandem DNA duplication of a 1.5-Mb region of 17p11.2p12 that contains the peripheral myelin gene PMP22. Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities, absent reflexes, and the completely penetrant electrophysiologic phenotype of symmetric reductions in motor nerve conduction velocities (NCVs). Molecular and fluorescence in situ hybridization (FISH) analyses were performed to determine the duplication status of the PMP22 gene in four patients with rare cytogenetic duplications of 17p. Neuropathologic features of CMT1A were seen in two of these four patients, in addition to the complex phenotype associated with 17p partial trisomy. Our findings show that the CMT1A phenotype of reduced NCV is specifically associated with PMP22 gene duplication, thus providing further support for the PMP22 gene dosage mechanism for CMT1A.
    Type of Medium: Electronic Resource
    Signatur Availability
    BibTip Others were also interested in ...
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...