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  • 1975-1979  (26)
  • 1
    Electronic Resource
    Electronic Resource
    Localisation of the G γ -, A γ -, δ - and β -globin genes on the short arm of human chromosome 11 (1979)
    [s.l.] : Nature Publishing Group
    Nature 281 (1979), S. 606-608 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The genes that we have studied are those which code for the Gy- and Ay-globin polypeptides of human fetal haemoglobin (HbF, a2?2 and c*2Ay2) and those which code for the - and 5-globins of major and minor adult haemoglobin (HbA, 〈*2J32 and HbA2, "252, respectively). DNA fragments ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/281606a0
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  • 2
    Electronic Resource
    Electronic Resource
    Conservation of autosomal gene synteny groups in mouse and man (1978)
    [s.l.] : Nature Publishing Group
    Nature 274 (1978), S. 160-163 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Chinese hamster x mouse somatic cell hybrids31 segregating mouse chromosomes (independent primary clones) were scored for the expression of murine enzymes including seven for which the gene loci had not yet been assigned in the mouse: PEP-S, PEP-D, LDH-A, ID-2, PK-3, HK-1 and PP. The mouse ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/274160a0
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  • 3
    Electronic Resource
    Electronic Resource
    Mouse chromosome 5 codes for ecotropic murine leukaemia virus cell-surface receptor (1978)
    [s.l.] : Nature Publishing Group
    Nature 274 (1978), S. 60-62 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Table 1 Correlation between I-gp71 binding and replication of murine leukaemia viruses in hamster x mouse hybrid cells 125I-gp71 binding/virus No. of replication clones No. of primary clones with: MuLV tested + / + -/- +/- -/+ % Discordancy Ecotropic viruses RLV 18 9 ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/274060a0
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  • 4
    Electronic Resource
    Electronic Resource
    Quantitative analysis of high-resolution trypsin-Giemsa bands on human prometaphase chromosomes (1978)
    Springer
    Human genetics 〈Berlin〉 45 (1978), S. 137-165 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have constructed ideograms of human prometaphase chromosomes from synchronized and from standard 72-h lymphocyte cultures. G banding was achieved by a trypsin-Giemsa (or Wright's stain) method. In addition to light (white) and dark (black) bands, we have distinguished three different shades of grey. This distinction is essential for proper identification of the increasing number of bands displayed by high-resolution chromosomes. The relative amount of chromatin in each category of staining intensity has been calculated and expressed as ‘light value.’ The ideograms represent the maximal number of bands discernible with some consistency on prometaphase chromosomes, i.e., 721 euchromatic and 62 ‘variable’ heterochromatic or heteromorphic bands. The ideograms are based on measurements. On selected printed copies of each chromosome derived from different cells and different individuals, the relative width of each band was measured in relation to the length of the respective chromosome arm. The measurements per chromosome were averaged and used for construction of the ideograms. The distance of each border between bands or sub-bands from the centromere has been calculated on a relative scale, with positions 0 at the centromere and 1.0 at the p terminus or q terminus. The numbering system for bands and sub-bands follows the Paris Conference (1971) recommendations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00286957
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  • 5
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis of trisomy 9 (1975)
    Springer
    Human genetics 〈Berlin〉 29 (1975), S. 243-250 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A male karyotype with trisomy 9 (47,XY,+9) was identified in amniotic fluid cells from a 40-year-old pregnant woman. After termination of the pregnancy by saline abortion, the cytogenetic diagnosis was confirmed in a cell line grown from placental tissue. Microscopic and gross pathological findings in the fetus were compared to 1 case with trisomy 9 and 3 with trisomy 9 mosaicism reported in the literature. A distinct clinical syndrome appears to be associated with this rare autosomal trisomy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00297630
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  • 6
    Electronic Resource
    Electronic Resource
    Silver staining studies on the short arm variant of human chromosome 17 (1978)
    Springer
    Human genetics 〈Berlin〉 42 (1978), S. 79-82 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The absence of silver grain precipitation on human chromosome 17, consistently observed in four patients displaying the 17p variant, supports the hypothesis that the 17p variant is a structural heteromorphism rather than translocated satellite material.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291628
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  • 7
    Electronic Resource
    Electronic Resource
    Partial trisomy 20p derived from a t(18;20) translocation (1976)
    Springer
    Human genetics 〈Berlin〉 34 (1976), S. 155-162 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Two sibs show a strikingly concordant syndrome of congenital anomalies and G-banding reveals that each has partial trisomy 20p resulting from a t(18;20) translocation. They resemble other cases of partial trisomy 20p in some respects but also differ in some ways. Their normal sib, mother, and half-aunt are balanced heterozygotes for the t(18;20) translocation. The segregation of the balanced translocation in this family is associated with an extremely poor reproductive record. The segregation pattern closely parallels that of a t(13;20) translocation in a family described by Carrel et al. (1971) and Francke (1972). The similarity of segregation patterns is predictable on the basis of probable pachytene configurations, but the dissimilarity of phenotypes between families is not readily explained.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278884
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  • 8
    Electronic Resource
    Electronic Resource
    Del(10)p autosomal deletion syndrome: Clinical, cytogenetic and gene marker studies (1975)
    Springer
    Human genetics 〈Berlin〉 26 (1975), S. 343-351 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 46,XX,del(10)p13 karyotype (Paris Conference, 1971) was identified in a 5-year-old Negro girl with mental and growth retardation, brachy-and trigonocephaly, downward slanting palpebral fissures, hypotelorism, epicanthal folds, ptosis, strabismus, dysplastic nose, high-arched palate, microdontia, small low-set posteriorly rotated ears, asymmetrical thorax, wide-spaced nipples, and minor abnormalities of hands and feet. Both parents and a brother had normal karyotypes. Expression of more than 50 polymorphic gene loci determining blood groups, serum proteins and red cell enzymes was studied. The results did not permit localization of a gene locus on the deleted segment of chromosome 10. The proposita was heterozygous for the Rh and MN blood groups and for the red cell enzymes adenosine deaminase, glutamate pyruvate transaminase and esterase D. These gene loci are thereby excluded from region 10p13→10pter.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00285386
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  • 9
    Electronic Resource
    Electronic Resource
    Hageman (factor XII) locus on 7q? (1978)
    Springer
    Human genetics 〈Berlin〉 45 (1978), S. 363-367 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278736
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  • 10
    Electronic Resource
    Electronic Resource
    Regional mapping of human genes for hexosaminidase B and diphtheria toxin sensitivity on chromosome 5 using mouse × human hybrid cells (1977)
    Springer
    Somatic cell and molecular genetics 3 (1977), S. 629-638 
    Details
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Mouse 3T3 (TK−) cells were fused to human leukocytes containing a balanced translocation [ins(3;5) (q27;q13q15)] in which part of the long arm of a chromosome 5 has been inserted into the long arm of a chromosome 3. Two independent, primary hybrid clones (XVI-10C; XVI-18A) retained the deleted chromosome 5 [del(5) (q13q15)] translocation product and were informative for regional mapping on chromosome 5 of genes involved in expression of hexosaminidase B (HEX B ) and diphtheria toxin sensitivity (DTS). Both XVI-10C and XVI-18A clones were sensitive to diphtheria toxin. Toxin-resistant derivatives of these clones (XVI-10C DTR; XVI-18A DTR) were analyzed for chromosome content and expression of Hex B activity, as were XVI-10C and XVI-18A cells which had not been exposed to diphtheria toxin. The results of this study provide evidence for localization ofDTS to region 5q15→5qter on the long arm of chromosome 5, and localization ofHEX B to region 5pter→5q13.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01539070
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