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
    Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 539-544 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We searched for criteria that could indicate breast cancer families with a high prior probability of being caused by the breast/ovarian cancer susceptibility locus BRCA1 on chromosome 17. To this end, we performed a linkage study with 59 consecutively collected Dutch breast cancer families, including 16 with at least one case of ovarian cancer. We used an intake cut-off of at least three first-degree relatives with breast and/or ovarian cancer at any age. Significant evidence for linkage was found only among the 13 breast cancer families with a mean age at diagnosis of less than 45 years. An unexpectedly low proportion of the breast-ovarian cancer families were estimated to be linked to BRCA1, which could be due to a founder effect in the Dutch population. Given the expected logistical problems in clinical management now that BRCA1 has been identified, we propose an interim period in which only families with a strong positive family history for early onset breast and/or ovarian cancer will be offered BRCA1 mutation testing. More recent work has indicated that RUL09 is probably due to BRCA2 (multipoint lod score of 1.17), while in families RUL47 and RUL49 a frameshift mutation in BRCA1 has been evidenced. Each of these two latter families contain an early-onset sporadic breast cancer patient, explaining their negative lod scores with 17q-markers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00223866
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Germline mutations in the 3′ part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 727-734 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Familial adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer characterized by the development of numerous adenomatous polyps predominantly in the colorectal region. Germline mutations in the adenomatous polyposis coli (APC) gene are responsible for most cases of FAP. Mutations at the 5′ end of APC are known to be associated with a relatively mild form of the disease, called attenuated adenomatous polyposis coli (AAPC). We identified a frameshift mutation in the 3′ part of exon 15, resulting in a stop codon at 1862, in a large Dutch kindred with AAPC. Western blot analysis of lymphoblastoid cell lines derived from affected family members from this kindred, as well as from a previously reported Swiss family carrying a frameshift mutation at codon 1987 and displaying a similar attenuated phenotype, showed only the wild-type APC protein. Our study indicates that chain-terminating mutations located in the 3′ part of APC do not result in detectable truncated polypeptides and we hypothesize that this is likely to be the basis for the observed AAPC phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050293
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Mapping SB in relation to HLA and GL01 using cells from first-cousin marriage offspring (1983)
    Springer
    Immunogenetics 18 (1983), S. 503-512 
    Details
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A newly defined leukocyte antigen system, the secondary B-cell (SB) system, was shown to be linked to HLA. The SB marker has been investigated in lymphocyte donors presumed to be genetically homozygous for HLA-A through HLA-D/DR by virtue of descent from a first-cousin marriage and of phenotypic homozygosity for these HLA markers. Of 19 donors, 3 were found to be heterozygous for SB. Studies of the families of these three donors could not distinguish with certainty whether the heterozygosity resulted from SB/DR recombination or from “pseudohomozygosity” for HLA-A through -D/DR by inheritance of two genetically unrelated but similar haplotypes. However, our data favored the occurrence of SB/DR recombination with a meiotic distance perhaps as large as 3.3 cMorgan. Recombinations were identified which mapped SB between HLA-B and GL01. These studies demonstrate the usefulness of cells from first-cousin marriage offspring in mapping a polymorphic genetic system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00364391
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Prevalence and molecular heterogeneity of alfa+thalassemia in two tribal populations from Andhra Pradesh, India (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 157-160 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We describe here the screening of a small group of apparently healthy individuals belonging to the tribal communities of Koya Dora and Konda Reddi. A remarkably high incidence of deletion and nondeletion α+ thalassemia mutants has been found with allele frequencies and distributions characteristic to each tribe. We have confirmed the strict relationship between Hb S levels and the number of α globin genes in double heterozygotes for the S gene and α thalassemia. In this population sample we did not find either heterozygous carriers of α0 thalassemia (deletion of both alpha genes in “cis”) or individuals showing hemolytic anemia due to inactivation of three α-globin genes (Hb H disease). Selection by malaria is most probably responsible for the prevalence of the various α+ thalassemia haplotypes among the two tribal populations of Andhra Pradesh.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00702860
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 494-501 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The locus responsible for the childhood-onset proximal spinal muscular atrophies (SMA) has recently been mapped to an area of 2–3 Mb in the region q12–13.3 of chromosome 5. We have used a series of radiation hybrids (RHs) containing distinct parts of the SMA region as defined by reference markers. A cosmid library was constructed from one RH. Thirteen clones were isolated and five of these were mapped within the SMA region. Both RH mapping and fluorescence in situ hybridization analysis showed that two clones map in the region between loci D5S125 and D5S351. One of the cosmids contains expressed sequences. Polymorphic dinucleotide repeats were identified in both clones and used for segregation analysis of key recombinant SMA families. One recombination between the SMA locus and the new marker 9Ic (D5S685) indicates that 9Ic is probably the closest distal marker. The absence of recombination between the SMA locus and marker Fc (D5S684) suggests that Fc is located close to the disease gene. These new loci should refine linkage analysis in SMA family studies and may facilitate the isolation of the disease gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00202811
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene (1996)
    Springer
    Human genetics 〈Berlin〉 98 (1996), S. 528-533 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Reverse transcription-polymerase chain reaction (RT-PCR)-based analyses of the adenomatous polyposis coli (APC) gene encompassing exons 1–15 revealed a complex pattern of products that were due to alternative splicing of exons 9, 10A and 14. The multiplicity of polypeptide chains obtained from T7-promoter-directed in vitro translation of the RT-PCR product pool was confirmed immunochemically to correspond to the mRNA isoforms, but not to represent products of internal initiation of translation. This observation is of particular relevance for the diagnostic protein truncation test (PTT), since this assay will pick up mRNA variants derived from physiological splice events, e.g., skipping of exons 9, 10A and 14. In vitro-translated proteins of reduced molecular weight were therefore detectable in healthy individuals. We extended this observation to the PTT of cDNA encompassing APC exons 1–14 of familial adenomatous polyposis patients. Knowledge of the normal polypeptide pattern seen in the diagnostic in vitro translation assay allowed us not only to identify translational stop mutations, but even to detect a splice acceptor mutation of exon 14 as a result of quantitative changes of the isoform pattern. Western immuno blot analysis on protein extracts of Epstein-Barr virus-immortalized lymphocytes of the same patients revealed that mutations accessible to the RT-PCR PTT yield intracellularly undetectable APC proteins.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050254
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 7
    Electronic Resource
    Electronic Resource
    Human αB-crystallin (CRYA2) gene mapped to chromosome 11q12-q23 (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 237-240 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The αB-crystallin gene (CRYA2) encodes the abundant lens protein αB-crystallin. A panel of human/ rodent hybrid cell lines, derived from five different parental combinations, was characterized with respect to human chromosomal content and the presence of well-established human chromosome-specific markers. This panel was screened for the presence of CRYA2, using the third exon of the hamster αB-crystallin gene as a probe. The patterns of segregation of CRYA2 with individual human chromosomes show the highest degree of concordance between CRYA2 and chromosome 11. Using cell hybrids containing translocated and/or partially deleted human chromosomes, the CRYA2 gene was localized to 11q12-11q23.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193203
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 8
    Electronic Resource
    Electronic Resource
    Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 481-485 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A de novo duplication of the proximal part of the long arms of chromosome 5 was found in a male born with craniostenosis, ear tags and kidney dysplasia. The nature of the chromosomal aberration was defined by fluorescence in situ hybridization and the orgin of the duplication was traced by polymorphic DNA markers. A comparison is made with the published cases showing similar duplications in the long arm of chromosome 5.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00216455
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 9
    Electronic Resource
    Electronic Resource
    APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 705-710 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Germ-line mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP). Genotype-phenotype correlation studies in patients with FAP have demonstrated associations of certain variants of the disease with mutations at specific sites within the APC gene. In a large FAP family, we identified a frameshift mutation located in the alternatively spliced region of exon 9. Phenotypic studies of affected family members showed that the clinical course of FAP was delayed, with gastrointestinal symptoms and death from colorectal carcinoma occurring on average 25 and 20 years later than usual, respectively. The numbers of colorectal adenomas differed markedly among affected individuals and the location of colorectal cancer lay frequently in the proximal colon. Our findings suggest that the exon 9 mutation identified in the pedigree is associated with late onset of FAP. The atypical phenotype may be explained by the site of the mutation in the APC gene. Analysis of the APC protein product indicated that the exon 9 mutation did not result in a detectable truncated APC protein. Given the location of the mutation within an alternatively spliced exon of APC, it is conceivable that normal APC proteins are produced from the mutant allele by alternative splicing.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00210303
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 10
    Electronic Resource
    Electronic Resource
    A new deletion polymorphism at D5S71 raises the linkage information on adenomatous polyposis coli: implications for presymptomatic diagnosis (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 365-368 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two independent study-groups, one in Britain and the other in the United States, were the first to report linkage between APC and a TaqI restriction fragment length polymorphism (RFLP) at D5S71 (probe C11p11) on chromosome 5q. They found no recombinants in about 50 informative meioses. The same TaqI RFLP was found to be uninformative for linkage in 15 Dutch polyposis families. The recently reported four base-pair deletion polymorphism (DEL1) at D5S71 has raised the polymorphism information content of this marker from 0.17 to 0.40 in the Dutch population. Seven of 20 polyposis families screened for the DEL1 as well as the TaqI polymorphism gave a combined peak lod score of 5.68 with no recombinants in 37 informative meioses. These data, together with those so far reported in the literature, raise the peak lod score to 17.09 at a recombination fraction of 0.05, the 95% upper confidence limit being 0.09. In combination with the use of another informative marker, D5S81 (probe YN5.48) closely mapping on the other side of APC, the presymptomatic diagnosis of the disease can be made with more than 99.9% certainty. It has to be stressed, however, that the the possible existence of more than one polyposis locus cannot, as yet, be excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201835
    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...