Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

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

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    A new XmnI polymorphism in the regulatory region of the corticotropin releasing hormone gene (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 697-698 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We describe the first polymorphism in the 5′ flanking region of the corticotropin releasing hormone (CRH) gene. DNA sequencing analysis identified a T → G base substitution in the 5′ flanking region of the gene. This substitution leads to the loss of an XmnI site at position 255 of the Genbank entry X67661. The frequency analysis in 32 Caucasians revealed that it is a rare polymorphism, with only three observed heterozygous individiuals for this polymorphism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050121
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Characterization of chimpanzee TCRV gene polymorphism: how old are human TCRV alleles? (1997)
    Springer
    Immunogenetics 47 (1997), S. 115-123 
    Details
    ISSN: 1432-1211
    Keywords: Key words T-cell receptor ; Variable region ; Genetic polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract  The functional relevance of the majority of human T-cell receptor A and B variable region gene polymorphisms is controversial. Studies of human and nonhuman primate major histocompatibility complex (MHC) class I and II polymorphisms show that allelic lineages predate human speciation and indicate that selection favors the long-term maintenance of these advantageous mutations. We investigated at the DNA level whether 15 human TCRA and B polymorphisms exist in contemporary chimpanzee populations. Polymorphisms consisted of variable region replacements, a recombination signal sequence base change, and silent mutations. With one exception, none of these human TCR polymorphisms were observed in contemporary chimpanzees. Investigation of the same polymorphisms in a range of other nonhuman primates showed little evidence of the existence of human polymorphism prespeciation. Chimpanzee TCRAV and BV regions were however polymorphic for variation so far not observed in human groups. Levels of mitochondrial and nuclear DNA sequence variation in contemporary chimpanzees suggest that population bottlenecks have not been a feature of chimpanzee evolution and it is therefore probable that most human TCR polymorphisms have evolved in the estimated five million years since the speciation of human and chimpanzees. Thus, over the evolutionary time period studied, ancient TCRA and B polymorphisms have not been maintained by selection to the same degree as postulated for MHC polymorphisms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002510050336
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Corticotropin releasing hormone (CRH) promoter polymorphisms in various ethnic groups of patients with rheumatoid arthritis (2000)
    Springer
    Zeitschrift für Rheumatologie 59 (2000), S. 29-34 
    Details
    ISSN: 0340-1855
    Keywords: Key words¶Corticotropin releasing hormone –¶polymorphisms –¶rheumatoid arthritis – genetics ; Schlüsselwörter¶Corticotropin Releasing Hormon –¶Polymorphismen –¶Rheumatoide Arthritis – Genetik
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die 5′ regulatorische Region des Corticotropin Releasing Hormons (CRH) ist hoch konserviert und spielt eine zentrale Rolle in der Vermittlung der Streßantwort des Organismus. Durch im Hypothalamus freigesetztes CRH wird die Hypophysen – Nebennierenrinden – Achse aktiviert, was in der Freisetzung von Cortisol und einer konsekutiven Regulation inflammatorischer und immunologischer Vorgänge resultiert. Ausgehend von der Hypothese, daß die inadäquate CRH Antwort auf Streß bei Patienten mit rheumatoider Arthritis (RA) auf einer genetischen Basis beruht, haben wir die Verteilung der CRH Allele sowohl bei kaukasischen (United Kingdom) als auch bei schwarzen (Südafrika) RA Patienten untersucht und mit der jeweiligen gesunden Kontrollgruppe verglichen. Wie in den kürzlich publizierten Kontrollgruppen fanden wir zwei biallele polymorphe Sequenzen (genannt A1 und A2, bzw. B1 und B2) in der regulatorischen Region des CRH Gens, die zu gemeinsamen Allelen zusammengefaßt werden konnten. Bei den weißen Kaukasiern war das Allel A2B1 protektiv gegenüber der Entwicklung einer RA (p=0,03; odds ratio 0,43, 95% confidence interval 0,21–0,88). Im Gegensatz dazu war bei den schwarzen südafrikanischen RA Patienten das Allel A1B1 positiv mit der RA assoziiert (p=0,05; odds ratio 1,78, 95% confidence interval 1,01–3,15). Die Studie liefert Hinweise darauf, daß Polymorphismen in der regulatorischen Region des CRH Gens neue genetische Marker für eine RA darstellen und eventuell als prädiktiver Faktor eingeführt werden können, wenn weitere genetische und umweltbedingte Risikofaktoren identifiziert werden.
    Notes: Summary The regulatory region of the corticotropin releasing hormone (CRH) is highly conserved and plays a crucial role in the response of the organism to stress. Release of CRH initiates a cascade of events leading to the release of cortisone and the regulation of inflammatory and immune events.¶Objective: Since it has been postulated that the impaired corticotropin releasing hormone (CRH) response to stress in patients with rheumatoid arthritis (RA) has a genetic basis, we investigated the distribution of CRH alleles in a cohort of UK patients as well as in South African RA patients.¶Methods: Restriction fragment length polymorphism of PCR amplified DNA products of the CRH promoter. We compared the allele frequencies in the RA patients with the respective healthy control population described previously.¶Results: As in the control populations we found two biallelic polymorphic sequences (named A1 and A2 and B1 and B2, respectively) in the CRH promoter which could be assigned to compound alleles. The A2B1 compound allele was protective against development of RA in a large group of UK Caucasoid patients (p=0.03; odds ratio 0.43, 95% confidence interval 0.21–0.88). In contrast, A1B1 was positively associated with RA in a cohort of black South African RA patients (p=0.05; odds ratio 1.78, 95% confidence interval 1.01–3.15).¶Conclusion: Taken together, these findings support the hypothesis that CRH promoter polymorphism represents a new genetic marker for RA susceptibility and may prove useful for the prediction of RA risk in the future when further genetic and environmental risk factors are determined.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s003930050002
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    HLA CLASS II REGION GENES AND SUSCEPTIBILITY TO DERMATITIS HERPETIFORMIS: DPB1 AND TAP2 ASSOCIATIONS ARE SECONDARY TO THOSE OF THE DQ SUBREGION (1996)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 23 (1996), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Classical dermatitis herpetiformis (DH) is associated with similar HLA class I, II and III polymorphisms to coeliac disease (CD). The two diseases share distinctive pathological changes to the small intestinal mucosa which reverse on withdrawal of dietary gluten. In order to determine the locus primarily associated with DH, and to examine whether there is a common genetic link predisposing to the enteropathy seen in both DH and coeliac disease, HLA-DR, DQ and DP subregion associations were investigated by HLA genotyping in 23 DH patients and 64 healthy controls. We also studied polymorphisms of the TAP2 locus, which is located between the DP and DQ subregions. Genotyping was carried out by PCR of genomic DNA with allelic assignment by sequence-specific oligonucleotide (SSO) hybridization or amplification refractory mutation system (ARMS). The strongest associations in the patient group were with HLA DRB1*0301 (91% vs 22% of controls), HLA DQB1*02 (100% vs 32% of controls) and DPB1*0101 (39% and 14%). These associations are similar to those described for CD. 100% of DH patients were positive for the DQA1*0501/DQB1*02 dimer in cis or trans and, by analogy with CD, this is probably responsible for presenting gliadin peptide implicated in the disease process. Homozygosity for DQ2 was significantly increased in the CD patient group compared to the DH patient group (65% versus 39%), and so differences in dosage of HLA class II genotypes between DH and CD may be responsible for the milder gastrointestinal symptoms characteristic of DH.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1996.tb00124.x
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    AN ANALYSIS OF HLA CLASS II GENE POLYMORPHISM IN BRITISH AND GREEK IDIOPATHIC MEMBRANOUS NEPHROPATHY PATIENTS (1995)
    Oxford, UK : Blackwell Publishing Ltd
    International journal of immunogenetics 22 (1995), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Fifty-two British and 29 Greek idiopathic membranous nephropathy (IMN) patients were analysed for DRB, DQA1, DQB1 and DPB1 gene polymorphism using second exon amplification and sequence-specific oligonucleotides (SSO). In addition 100 British and 92 Greek controls were analysed.A highly significant increased frequency of the DRB 1*0301 allele was found in IMN patients from Britain (80%), when compared to controls (27%, OR 10.6, P= 0.000004). A lower frequency of DRB 1 *0301 was observed in Greek IMN patients (33%), but this was just significant before correction, when compared to Greek controls (15%, OR 3, P= 0.02). The DRB3 allele most often associated with DRB 1 *0301 was DRB3*0101 (OR 4.2, P= 0.00025) in British patients and DRB3*0201/2 (OR 11, P=0.006) in Greek patients. In Greek IMN patients a decrease in DR16 was found (OR 0.08, P=0.004), and the overall incidence of DR2 was significantly lowered when both sets of IMN patients were combined (OR 0.21, χ2 17.6, P= 0.00013).The incidence of DQA1 *0501 was raised in both Greek (96%vs. 66%, OR 9.7, χ2 6.9, P= 0.009) and British IMN (85%vs. 45%, OR 7.4, χ2 20, P= 0.00007) patients. This gives some support to a proposal for a major role for this allele in IMN. However, DQB1 *0201 was also raised in both Greek (50%vs. 21%, OR 3.6, χ2 8.1, P= 0.005) and British (90%vs. 44%, OR 10, χ2 21.7, P=0.00004) IMN patients. The DQA1*0102 allele was significantly lowered in Greek IMN patients (15%vs. 32%, OR 0.05, 12.2, P=0.0008), probably reflecting a lowering in the DR16 haplotype. No significant difference was observed in the frequencies of DPB alleles in patients and controls.It is concluded that DRB 1*0301 has the strongest association with British Caucasoid IMN. The Greek Caucasoid IMN association with DRB 1*0301 is weaker, and a role for other alleles has not been eliminated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.1995.tb00228.x
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Polymorphisms of the Vitamin D Receptor, Infant Growth, and Adult Bone Mass (1997)
    Springer
    Calcified tissue international 60 (1997), S. 233 -235 
    Details
    ISSN: 1432-0827
    Keywords: Key words: Bone density — Vitamin D receptor — Polymorphism — Growth — Genetic.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Abstract. Family and twin studies have demonstrated a strong genetic component to the development of peak bone mass. Early fetal and infant environment has also been shown to influence bone mass through an effect on skeletal size and mineral content. We report a retrospective study that has examined whether early infant growth is regulated by genetic factors shown to be associated with bone mass. We have determined the vitamin D receptor (VDR) gene alleles for 66 women (mean age 65.5 years) on whom detailed birth records were available. There was a statistically significant trend (P= 0.04) for VDR genotype against weight at the age of 1 year, with the ``tt'' homozygote group having 7% higher weight. We conclude that early fetal or infant environment may interact with an individual's underlying genotype to program early skeletal growth, and that this may track through later life to influence adult characteristics. Further prospective studies are required, however, to fully clarify the precise environmental and genetic mechanisms underlying these findings.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002239900220
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 7
    Electronic Resource
    Electronic Resource
    Polymorphisms of the vitamin d receptor gene do not predict quantitative ultrasound of the calcaneus or hip axis length (1996)
    Springer
    Osteoporosis international 6 (1996), S. 334-337 
    Details
    ISSN: 1433-2965
    Keywords: Broadband ultrasound attenuation ; Hip axis length ; Osteoporosis ; Twins ; Velocity of sound ; Vitamin D receptor gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Quantitative ultrasound of the calcaneus and hip axis length are independent predictors of hip fracture and have a major genetic component. Polymorphisms of the vitamin D receptor gene (VDR) have been associated with variations in bone density in a number of studies. The aim of this study was to examine the role of VDR on other parameters associated with the risk of fracture. One hundred and eighty-nine pairs of healthy female dizygous twins were genotyped and had calcaneal ultrasound (broadband ultrasound attenuation and velocity of sound) and hip axis length measurements performed. Twin analysis using intraclass correlation coefficients and intrapair differences failed to find an association between the VDR polymorphisms and hip axis length or calcaneal ultrasound. Analysing the twins as a population, irrespective of twinning, also failed to find any association. The search for alternative genes influencing bone fragility should continue as a research priority.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01623395
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...