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  • 1
    Electronic Resource
    Electronic Resource
    Further chromosomal studies onEllobius lutescens: Heteromorphism of chromosome No. 1 is not associated with sex determination (1986)
    Springer
    Cellular and molecular life sciences 42 (1986), S. 1281-1282 
    Details
    ISSN: 1420-9071
    Keywords: Ellobius lutescens ; sex chromosomes ; chromosome heteromorphism ; sex determination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Twelve animals of the speciesEllobius lutescens from two generations were studied with various chromosomal banding techniques. This species carries 17 chromosomes in both sexes. In preceding studies chromosomal sex determination was assigned to different structural variants of chromosome No. 1. In the present study, no definite chromosomal basis for sex determination was found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01946423
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  • 2
    Electronic Resource
    Electronic Resource
    Early and late replication patterns of increased resolution in human lymphocyte chromosomes (1981)
    Springer
    Chromosoma 82 (1981), S. 315-319 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract High resolution patterns of DNA replication in human lymphocyte chromosomes during early and late S-phases were studied by means of the BrdU-Hoechst-Giemsa technique. The late replicating bands were found to be identical with highly detailed G-bands. Between early replicating bands and R-bands subtile differences were observed. A possible correlation between a replication band seen on the chromosomal level and a replication cluster observed after fiber autoradiography is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286114
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  • 3
    Electronic Resource
    Electronic Resource
    Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase (1979)
    Springer
    Human genetics 〈Berlin〉 46 (1979), S. 199-207 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We report on three independent cases with a partial deficiency of placental steroid sulfatase (E.C.3.1.6.2). Upon routine pregnancy monitoring these patients were detected on the basis of low estriol excretion and failing induction of labor. In all three cases a male was delivered and subsequently the diagnosis of partial deficiency of placental steroid sulfatase was confirmed enzymatically in placenta homogenates. In one case, fibroblast cultures were established from skin explants of mother and son. In fibroblasts of the child, as in placental tissue, the activity of steroid sulfatase was only 34% of normal. Similar values were obtained for arylsulfatase C, though this enzyme is clearly separable from steroid sulfatase by electrophoresis. In cells of the mother, enzyme activities were unremarkable.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291922
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  • 4
    Electronic Resource
    Electronic Resource
    Distribution of G6PD phenotypes in red blood cells of Southern African Negroids: Evidence for somatic selection (1978)
    Springer
    Human genetics 〈Berlin〉 42 (1978), S. 215-221 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In a recent population study, we observed a striking deficit of G6PD heterozygotes among Southern African Negroid females. This finding was interpreted tentatively as evidence for a small number of hematopoetic stem cells in man. In a follow-up study we examined peripheral blood and cord blood in 547 mothers and in their newborn offspring. In mothers and sons, the frequencies of the G6PD alleles are apparently quite different. When the allele frequencies determined in sons are used for calculation of the expected phenotype frequencies in mothers and daughters, there is a large deficit of maternal G6PD AB phenotypes, and an equivalent surplus of G6PD homozygotes. However, no relevant heterozygote deficit is observed in newborn daughters. This discrepancy may be explained by the assumption that in peripheral blood of heterozygotes carrying the GdA- allele, G6PD-deficient cells progressively become eliminated during development from birth to adulthood. In other words, the large heterozygote deficit observed in adult females may be due to somatic selection rather than to a small pool of hematopoetic cells at the time of X differentiation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00283641
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  • 5
    Electronic Resource
    Electronic Resource
    A new case of Y to X translocation in a female (1980)
    Springer
    Human genetics 〈Berlin〉 54 (1980), S. 303-307 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary An unbalanced Y to X translocation due to a de novo mutation is described in a female with some clinical features of the Turner syndrome. Her karyotype is defined as 46,X,t(X;Y)(Xp11.2;Yq11). Hae III restriction analysis revealed an amount of male-specific DNA sequences in the normal male range. DNA replication analysis showed that in all cells studied the translocation X chromosome was late replicating and that the X segment of the translocation chromosome was later replicating while replication of the Y segment varied. A serologic test indicated a reduced titer of H-Y antigen, and biochemical studies for the enzyme steroid sulfatase revealed activity in the male range.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291573
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  • 6
    Electronic Resource
    Electronic Resource
    Turner syndrome patients are H-Y positive (1980)
    Springer
    Human genetics 〈Berlin〉 54 (1980), S. 315-318 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary H-Y antigen was examined in six patients exhibiting the characteristic features of Turner syndrome. Five of the patients were of the karyotype 45,X, and one was a mosaic 45,X/46,Xi(Xq). H-Y antigen was detected in all of them, however, compared to male controls, their antigen titer was reduced. Within the intermediate range between female and male controls, considerable interindividual variation was detected among the patients which could be due at least in part to biological variation. The findings permit the inference that the H-Y structural gene is not Y-linked, and support the assumptions of an X-linked gene escaping inactivation and of it controlling the expression of the H-Y structural gene. It is probable that the structural gene itself is autosomal. The results also suggest that male gonadal differentiation is dependent on a threshold level of H-Y antigen concentration.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291575
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  • 7
    Electronic Resource
    Electronic Resource
    In situ hybridization studies on variant t(2;8) translocations in Burkitt lymphoma lines (1986)
    Springer
    Human genetics 〈Berlin〉 73 (1986), S. 73-76 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In situ hybridization studies were performed on two Burkitt lymphoma cell lines with variant t(2;8) translocation. In both cell lines the Ck-gene is found in juxtaposition to the c-myc gene on the 8q+ chromosome. The location of the c-myc gene 5′ of an immunoglobulin constant gene appears to be a general feature of all Burkitt lymphomas. On the 2p chromosome the site of the breakpoint of the translocation is variable. In the cell line BL 64 the break is in the fragment carrying Jk sequences and in cell line JI it is between Jk and Vk. In the cell line BL 64 different marker chromosomes were observed which result from breakage near or within the JGK-gene cluster on chromosome 2p.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292668
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  • 8
    Electronic Resource
    Electronic Resource
    A gene controlling H-Y antigen on the X chromosome (1980)
    Springer
    Human genetics 〈Berlin〉 54 (1980), S. 149-154 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The existence of a strict correlation between presence of testicular tissue and presence of H-Y antigen in mammals and man leads to the conclusion that H-Y antigen is an essential differentiation factor in testicular morphogenesis. Presence of low titers of this differentiation antigen even in fertile females indicates that its morphogenetic effect depends on a threshold. Here, studies on H-Y antigen in female individuals with various deletions of the X-chromosome are reported. It turns out that deletion of Xp results in the synthesis of reduced amounts of H-Y antigen, while deletion of Xq does not. In a fertile female with only Xp223 deleted due to an X/Y translocation, including the distal Yq, presence of a reduced H-Y titer allows for the tentative assignment of a controlling gene repressing the H-Y structural gene. From the cases studied, it follows that the H-Y structural gene is autosomal and under the control of X- and Y-linked genes. The conception emerges that interaction between X- and Y-linked genes or their products results in variation of the H-Y antigen titer. The fate of the indifferent gonadal anlage to differentiate into the male or the female direction will depend on the titer of H-Y antigen reached by the action or interaction of the controlling genes involved.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278963
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  • 9
    Electronic Resource
    Electronic Resource
    A comparative mapping study of fragile sites in the human and murine genomes (1987)
    Springer
    Human genetics 〈Berlin〉 77 (1987), S. 157-162 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Fragile sites on murine chromosomes were induced by the antimetabolites methotrexate (MTX), fluorodeoxyuridine (FdU), and aphidicolin (APD). To facilitate chromosome identification the analysis was performed on chromosomes of a CD/CD mouse that possesses nine pairs of Robertsonian translocation chromosomes of known arm composition. The pattern of induced fragile sites was rather similar for the different antimetabolites used. Many of them, e.g., 2B, 3B, 5B and 9D, are included in Giemsa-negative bands. On the X chromosome a fragile site was mapped to the region XC/D. Comparative mapping data with human fragile sites have been informative in most instances. Conservation of synteny within known linkage groups seems very likely.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00272384
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  • 10
    Electronic Resource
    Electronic Resource
    Human platelet basic protein/connective tissue activating peptide-III maps in a gene cluster on chromosome 4q12–q13 along with other genes of the β-thromboglobulin superfamily (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 367-368 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Pro-platelet basic protein (pro-PBP) is the precursor of the two platelet α-granule proteins, PBP and connective tissue activating peptide-III. Upon platelet activations they are released and further processed in plasma to β-thromboglobulin and neutrophil-activating peptide-2. The gene encoding pro-PBP is mapped in this study to chromosome 4q12–q13. At least four other members of this family of small inducible cytokines, including NAP-1/Il-8 and platelet factor 4, reside within the same locus, indicating a gene cluster for the β-thromboglobulin family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200921
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