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  • 1
    Electronic Resource
    Electronic Resource
    A possible active segment on the inactive human X chromosome (1976)
    Springer
    Chromosoma 59 (1976), S. 137-145 
    Details
    ISSN: 1432-0886
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract An idic(Xp-) in which the two X chromosomes are attached short arm to short arm, and which thus has two b regions (the Q-dark segment next to the centromere on Xp) between the inactivation centers, assumed to be situated on the Q-dark region next to the centromere on Xq, showed 63.8% bipartite Barr bodies as compared with 22.2% formed by idic(Xq-). In addition, the mean distance of the two parts of the Barr bodies in the fibroblasts of a patient with idic(Xp-) is significantly greater than in the cases with one or no b region. Contrary to the other patients with abnormal X chromosomes, the buccal cells of a woman idic(Xp-) showed a number of bipartite Barr bodies. — To explain these observations we have put forward the hypothesis that the b region on the Xp always remains active and thus, when the rest of the chromosome forms a Barr body, this segment is extended, allowing the two parts of the X chromatin to get farther apart and at the same time increasing the percentage of bipartite bodies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00328482
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  • 2
    Electronic Resource
    Electronic Resource
    Position of the human X inactivation center on Xq (1979)
    Springer
    Human genetics 〈Berlin〉 50 (1979), S. 59-64 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In three women with a 46,XXq- chromosome constitution, the length of the deletion was expressed as the ratio of the remaining part of Xq to Xp $$\frac{{c'}}{{a + b}}$$ . In one of them (KH) this ratio was 0.33, in another (GE) 0.59, and in the third (AP) the ratio fell between these values. The break in KH is more or less on the border of the Q-dark proximal region. A comparison with relevant X-autosomal translocations indicates that the X inactivation center lies near, but not at the border of, the Q-dark and the adjoining bright region (c and d).
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295590
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  • 3
    Electronic Resource
    Electronic Resource
    Hot spots and functional organization of human chromosomes (1978)
    Springer
    Human genetics 〈Berlin〉 43 (1978), S. 13-22 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Our working hypothesis is that the Q-darker human chromosome segments have higher gene densities than the bright regions. Especially prominent in this respect are six hot spots, the short Q-dark regions in 3p, 6p, 11q, 12q, 17q, and 19 (p or q), which have been chosen because their density of mitotic chiasmata is above 5. Chromosomes with gene-rich segments would act as trisomy lethals in very early embryos, whose spontaneous abortions would not be recognized. Containing active genes, the regions would be looped out in interphase and thus be more easily available for mitotic pairing and crossing-over. To test this hypothesis, correlations and partial correlations of the following parameters have been determined: the density of mitotic chiasmata, the number and density of localized genes, the incidence of trisomic abortions, the length of chromosomes, and their Q-brightness. Overall, the correlations and partial correlations agree with, but do not prove, the working hypothesis. Far stronger evidence for our hypothesis comes from the highly significant negative effect of hot spots on trisomic abortions which would act as a kind of trisomy lethal. The gene numbers on the hot-spot chromosomes as compared with the controls, on the other hand, are in the right direction, but the difference is not significant.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00396473
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  • 4
    Electronic Resource
    Electronic Resource
    Genetic polymorphism of vitamin B12 binding (R) proteins of human saliva detected by isoelectric focusing (1979)
    Springer
    Biochemical genetics 17 (1979), S. 909-920 
    Details
    ISSN: 1573-4927
    Keywords: genetic polymorphism ; saliva ; B12-binding (R) proteins ; isoelectric focusing
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Genetic polymorphism of the vitamin B12 binding (R) proteins of parotid saliva is determined by autosomal inheritance of codominant alleles. This hypothesis is supported by studies in 43 families including 152 children. For randomly collected salivas from 143 whites, 104 blacks, and 75 Chinese, gene frequencies are as follows: for whites, Rs 1=0.88, Rs 2=0.12; for blacks, Rs 1=0.94, Rs 2=0.06; for Chinese, Rs 1=1.00. This genetic marker is also shared by R proteins of milk, tears, and leukocytes. In the Rs 1–2 salivary type there is less labeling of the protein products of Rs 2 v. Rs 1 with 57Co B12 as assessed by the intensity of the bands on the autoradiogram. There is no evidence for close linkage (θ〈0.01) between Rs and TC II (transcobalamin II) or between Rs and salivary protein locus Pr, Db, Gl, or Ps.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00504312
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  • 5
    Electronic Resource
    Electronic Resource
    Polymorphism of Ps (parotid size variant) and detection of a protein (PmS) related to the Pm (parotid middle band) system with genetic linkage of Ps and Pm to Gl, Db, and Pr genetic determinants (1980)
    Springer
    Biochemical genetics 18 (1980), S. 483-501 
    Details
    ISSN: 1573-4927
    Keywords: genetic polymorphism ; Ps and Pm proteins ; saliva
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Genetic polymorphism of the Ps (parotid size variant) proteins found in saliva is determined by autosomal inheritance of two expressed and one unexpressed allele. This hypothesis is supported by studies in 43 families including 153 children. Gene frequencies determined for 150 randomly collected salivas from whites and 101 randomly collected salivas from blacks are as follows: for whites, Ps 1=0.598, Ps 2=0.101, Ps 0=0.301; for blacks, Ps 1=0.185, Ps 2=0.126, and Ps 0=0.689. The electrophoretic polymorphism is manifested by apparent differences in molecular weights between Ps proteins. The Ps proteins are glycosylated and have an approximate isoelectric point of pI 8.1 as determined by isoelectric focusing in gels. We have also found in saliva the presence of a protein (PmS) which shows strong positive correlations with the presence of the smaller sized Pm (PmF) salivary protein described by Ikemoto et al. (1977). This suggested that PmS is probably part of the Pm protein polymorphic system. For randomly collected salivas from whites, the gene frequencies are PmF+=0.15 (N=140) and PmS+=0.12 (N=150). For randomly collected salivas from blacks, the gene frequency is PmS+=0.24 (N=101). The gene frequency of PmF+ was not determined. Family studies support autosomal inheritance of PmF and PmS proteins. There is strong evidence for linkage of Pm to the proline-rich protein (PPP) “region” (11 families, lod score at ϑ=0.01 is 7.64) and of Ps to the PPP “region” (13 families, lod score at ϑ=0.01 is 11.50). Protein products of six linked loci (Pr, Pa, Db, Ps, Pm, and Gl), when tested against rabbit anti-Gl antiserum, show immunological reactions of partial or complete identity with each other by double diffusion analysis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00484396
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  • 6
    Electronic Resource
    Electronic Resource
    Genetic polymorphism of PIF (parotid isoelectric focusing variant) proteins with linkage to the PPP (parotid proline-rich protein) gene complex (1981)
    Springer
    Biochemical genetics 19 (1981), S. 475-485 
    Details
    ISSN: 1573-4927
    Keywords: parotid isoelectric focusing variant ; genetic polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Genetic polymorphism is found among the PIF (parotid isoelectric focusing variant) salivary proteins after separation by prolonged isoelectric focusing in pH 3.5–5.2 urea polyacrylamide slab gels subsequently stained for protein. Two PIF proteins are either present (PIF +) or absent (PIF −) from all salivas. The phenotypes are determined by autosomal inheritance of two alleles, PIF + and PIF −. Gene frequencies in randomly collected samples show marked racial differences: among 148 whites, PIF + is 0.66 and PIF − is 0.34; among 90 blacks, PIF + is 0.35 and PIF − is 0.65; among 78 Chinese, PIF + is 0.56 and PIF − is 0.44. Studies in 41 families including 129 children support the interpretation of control of PIF by a single autosomal locus. In 8 PIF+ × PIF− matings, there were 8 PIF− (6.34 expected) children. In 33 PIF+ × PIF+ matings, there were 7 PIF− (6.70 expected) children. Linkage studies indicate that PIF is closely linked to the proline-rich protein (PPP) gene complex (e.g., for six families, lod score at ϑ=0.00 of PIF/G1 is 3.58). In 107 randomly collected samples from whites, PIF is strongly associated with Db (x 1 2 =20.02; P〈0.0001) and Gl (x 1 2 =12.58; P=0.0005) but not with Pr, Ps, Pm, and Pa proteins. These data (probably reflecting genetic disequilibrium) suggest that PIF may be closer to Db and G1 than to other identified loci of the PPP gene complex. The PPP gene complex includes at least seven genes (and probably more) that produce many acidic and basic proline-rich proteins, constituting about two-thirds of parotid salivary proteins that are thought to have important functions at the tooth surfaces.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00484620
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  • 7
    Electronic Resource
    Electronic Resource
    Genetic polymorphism of human salivary proline-rich proteins: Further genetic analysis (1974)
    Springer
    Biochemical genetics 12 (1974), S. 109-120 
    Details
    ISSN: 1573-4927
    Keywords: genetic polymorphism ; salivary proline-rich proteins
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Electrophoresis of concentrated parotid saliva on slab polyacrylamide gels negatively stained with 3,3′-dimethoxybenzidine and hydrogen peroxide (DMB stain) showed nine phenotypes among the proline-rich proteins. These phenotypes are the expression of four autosomal codominant alleles. Gene frequencies are, for Caucasians, Pr 1=0.640, Pr 1′=0.005, Pr 2=0.080, Pr 2′=0.275; for Negroes, Pr 1=0.700, Pr 1′=0.050, Pr 2=0.080, Pr 2′=0.170; for Chinese, Pr 1=0.770, Pr 1′=0, Pr 2=0, Pr 2′=0.230. The presence or absence of another pair of proteins giving the same negative staining is inherited as an autosomal dominant trait (Db). Homozygous Db + + and heterozygous Db + − individuals could not be distinguished. The genetic determinant (Db) for this pair of proteins is either closely linked to or part of the Pr locus. Gene frequencies are, for Caucasians, Db +=0.12, Db −=0.88; for Negroes, Db +=0.56, Db −=0.44; for Chinese, Db +=0.07, Db −=0.93.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00487820
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  • 8
    Electronic Resource
    Electronic Resource
    Genetic polymorphism of the major parotid salivary glycoprotein (Gl) with linkage to the genes for Pr, Db, and Pa (1979)
    Springer
    Biochemical genetics 17 (1979), S. 257-279 
    Details
    ISSN: 1573-4927
    Keywords: genetic polymorphism ; glycoprotein ; saliva
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: Abstract Genetic polymorphism of the major glycoprotein (Gl) found in parotid saliva is determined by autosomal inheritance of one unexpressed and four expressed alleles. This hypothesis is supported by studies in 41 white families including 146 children. For 143 randomly collected salivas from whites and 82 randomly collected salivas from blacks, maximum likelihood estimates of the gene frequencies are as follows: for whites, Gl 1=0.742, Gl 2=0.040, Gl 3=0.155, Gl 4=0.017, Gl 0=0.046; for blacks, Gl 1=0.459, Gl 2=0.050, Gl 3=0.337, Gl 4=0.044, Gl 0=0.110. There is strong evidence for linkage of Gl/Pr (seven families, lod score at θ=0 is 5.24) and Gl/Db (eight families, lod score at θ=0 is 4.45). The allelic products of Gl show evidence for linkage disequilibrium with the products of the Pr, Db, and Pa loci (P〈0.0005). On the basis of varying degrees of linkage disequilibrium, Gl may be closer to Db than to Pr or Pa and on the “outside” of Db with respect to Pr or Pa. Amino acid analyses of Gl 1 and Gl 4 proteins show strong resemblances in composition to the major basic glycoprotein and the acidic proline-rich proteins of parotid saliva described by other workers. The polymorphic forms of the Gl proteins show microheterogeneity due to variability in charge and molecular weight. The electrophoretic polymorphism appears to be determined by apparent differences in molecular weights between the Gl proteins.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00498967
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  • 9
    Electronic Resource
    Electronic Resource
    Random arrangement of chromosomes inUvularia (Liliaceae) (1984)
    Springer
    Plant systematics and evolution 147 (1984), S. 289-297 
    Details
    ISSN: 1615-6110
    Keywords: Angiosperms ; Liliaceae ; Uvularia ; Chromosome arrangement
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Chromosome arrangement in interphase has been inferred from an analysis of the relative positions of the chromosomes and the chromosome arms in untreated haploid pollen grain metaphases ofUvularia grandiflora. The distances between centromeres forming the smallest possible circle were measured in 43 metaphases. The relative positions of the chromosomes did not differ significantly from randomness. Neither did similar-sized chromosome arms show any tendency to be next to each other. The results thus disagree both with the hypothesis ofComings (1968) that each chromosome occupies a definite position in the interphase nucleus and with the claim ofBennett (1982) that similar-sized chromosome arms lie next to each other.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00989390
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  • 10
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    A possible active segment on the inactive human X chromosome (1976)
    Springer
    Details
    Publication Date: 1976-01-01
    Print ISSN: 0009-5915
    Electronic ISSN: 1432-0886
    Topics: Biology , Medicine
    Published by Springer
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