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  • 1
    Electronic Resource
    Electronic Resource
    Carcinoembryonic antigen (CEA) expression in somatic cell hybrids (1982)
    Springer
    Somatic cell and molecular genetics 8 (1982), S. 1-13 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Five hybrids (LSB) were formed between LS174T, a human CEA-producing colonic tumor cell line, and BU25.CAPR, a HeLa derivative which does not produce CEA. All five hybrids produce CEA, but less per cell than LS174T. Approximately 10 % of the chromosomes have been lost from these hybrids. In an attempt to map the gene(s) coding for the protein moiety of CEA, 7 LSPG and 28 LSR hybrids were formed between LS174T and PG19, a mouse melanoma cell line, and LS174T and RAG, a mouse kidney adenocarcinoma cell line, respectively. These hybrids retain between 4 and 21 human chromosomes, and each human chromosome is represented in at least seven hybrids. Two hybrids appeared to produce trace amounts of CEA. These results might represent repression by the mouse genome of CEA production or the production of a structurally abnormal CEA molecule.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01538646
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  • 2
    Electronic Resource
    Electronic Resource
    DNA deletions in mild and severe Becker muscular dystrophy (1987)
    Springer
    Human genetics 〈Berlin〉 75 (1987), S. 281-285 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The DNA of 33 patients diagnosed as suffering from Becker muscular dystrophy (BMD) has been probed with cloned DNA sequences from Xp21, known to reveal DNA deletions in patients suffering from the more severe Duchenne muscular dystrophy (DMD). Two BMD cases showed clear deletions. A third case gave aberrant band sizes, which further analysis showed to be caused by a small deletion. This suggests that deletions in DXS164 occur approximately as frequently in BMD as they do in DMD. Of the two cases showing large deletions, one is at the severe end of the Becker clinical spectrum, whilst the other is a classical Becker-type dystrophy. The fact that loci defined by probes commonly deleted in classical DMD patients are also deleted in BMD patients of varying severity is strong additional evidence that these disorders are allelic, and further justifies the use of probes with defined linkage relationships to DMD also being used for counselling in BMD families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00281075
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  • 3
    Electronic Resource
    Electronic Resource
    Steroid sulphatase levels in XX males, including observations on two affected cousins (1981)
    Springer
    Human genetics 〈Berlin〉 59 (1981), S. 87-88 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Quantitative assays of steroid sulphatase in XX males have shown that some individuals have two functional loci, and others only one. Two affected cousins, who cannot share the same X-chromosome, nevertheless have male levels of steroid sulphatase, suggesting functional abnormality of the X chromosome. The hypothesis is advanced that these and other unusual features of X-chromosome function in some XX males, could be explained if such cases were due to an autosomal mutation, exercising its effect by causing abnormal inactivation of a subterminal area of Xp which normally escapes the inactivation process.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278863
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  • 4
    Electronic Resource
    Electronic Resource
    Physical mapping shows close linkage between the α-galactosidase A gene (GLA) and the DXS178 locus (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 95-99 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract X-linked agammaglobulinaemia (XLA) is an inherited disorder characterised by a lack of circulating B-cells and antibodies. While the gene involved in XLA has not yet been identified, the locus for the disorder is tightly linked to the polymorphic marker DXS178, which maps to Xq22. Fabry disease is an X-linked recessive disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A. The gene encoding this enzyme has been characterized and also maps to Xq22. Using pulsed field gel electrophoresis we have constructed a long-range restriction map that shows that the α-galactosidase A gene (GLA) and DXS178 lie no more than 140 kb apart on a stretch of DNA containing a number of putative CpG islands. We have also isolated yeast artifical chromosome (YAC) clones that confirm this physical linkage. The localisation of DXS178 near the α-galactosidase A gene will facilitate carrier detection in Fabry families using restriction fragment length polymorphism (RFLP) analysis. The identification of a number of CpG islands near DXS178 also provides candidate locations for the gene responsible for XLA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00216154
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  • 5
    Electronic Resource
    Electronic Resource
    Cystic fibrosis typing with DNA probes: experience of a screening laboratory (1988)
    Springer
    Human genetics 〈Berlin〉 79 (1988), S. 76-79 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A sample of 125 individuals from 37 British cystic fibrosis (CF) families with at least one living affected child were typed with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CF gene. These probes were MetD, MetH, pJ3.11 and 7C22. Using this combination of probes, 30 out of the 37 families were sufficiently informative to enable prenatal diagnosis of the disease. Linkage analysis has also proved to be useful in excluding CF in two cases where diagnosis of the disease was equivocal in the sibling of an affected child.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291715
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  • 6
    Electronic Resource
    Electronic Resource
    Cell cycle studies in chorionic villi (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 127-134 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have studied the cell cycle of cells obtained from chorionic villi in direct and culture preparations by incorporation of the thymidine analogue BrdU to produce latelabelling or sister chromatid differentiation patterns. We have, therefore, been able to estimate the duration of the cell cycle and, more specifically, the length of some of its phases. While results for chorionic villus sample cells in culture resembled those obtained for fibroblasts, data for the spontaneously dividing trophoblastic cells in direct preparations were different. Villi exposed to BrdU immediately after sampling showed a slight delay in the incorporation of the analogue and a lower percentage of labelled cells compared to villi treated after an overnight incubation, probably due to a temporary effect of the sampling technique. Results from semi-direct protocols suggest that cells have a G2 of no more than 4h, and a mid-S phase of 10–16h. The G1 period is very variable. After 48 h incubation with BrdU, only 4% of cells reach their second generation, whereas this percentage increases up to 70% after 72h, indicating that under these experimental conditions most cells have a cell cycle of approximately 36 h. The average number of sister chromatid exchanges was similar in both direct preparations and cultures: 5.2±2.1 SCE per cell.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00702854
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  • 7
    Electronic Resource
    Electronic Resource
    Incontinentia pigmenti and X-autosome translocations (1989)
    Springer
    Human genetics 〈Berlin〉 81 (1989), S. 269-272 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Incontinentia pigmenti (IP) is a rare X-linked disease with marked female-to-female transmission and a dominant pattern of inheritance. Reports of six unrelated females with IP and X-autosomal translocations, all with the X breakpoint at Xp11, and an additional report of a female with IP and a 45,X/46,X,r(X) karyotype suggests that this may be the locus for the IP gene. When four of these cases, including the r(X), were re-examined with a non-isotopic in situ hybridization technique and an X centromere-specific probe (pSV2X5), the Xp11 breakpoint was confirmed. However, results from a fifth reported case, t(X;17), showed that the X breakpoint was within the centromeric alphoid repetitive sequences recognized by the probe pSV2X5. As the clinical presentation of this patient was consitent with the IP phenotype and diagnosis, the centromeric position of the X-chromosome breakpoint raises several questions with respect to the homogeneity of the Xp11 locus for IP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00279002
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  • 8
    Electronic Resource
    Electronic Resource
    A novel NcoI polymorphism creates a fifth haplotype in the 3′ untranslated region of CKM (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 689-689 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A novel NcoI polymorphism has been detected in the 3′untranslated region of the creatine kinase (CKM) gene. The additional NcoI restriction site creates a fifth haplotype for the NcoI and TaqI restriction fragments length polymorphisms at this locus, and segregates with the myotonic dystrophy gene in 3 generations of an affected family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00221966
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  • 9
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    Cell cycle studies in chorionic villi (1988)
    Springer
    Details
    Publication Date: 1988-10-01
    Print ISSN: 0340-6717
    Electronic ISSN: 1432-1203
    Topics: Biology , Medicine
    Published by Springer
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  • 10
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    A novel NcoI polymorphism creates a fifth haplotype in the 3? untranslated region of CKM (1992)
    Springer
    Details
    Publication Date: 1992-08-01
    Print ISSN: 0340-6717
    Electronic ISSN: 1432-1203
    Topics: Biology , Medicine
    Published by Springer
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