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  • 1
    Electronic Resource
    Electronic Resource
    Protease inhibitor (Pi) locus, fertility and twinning (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 329-332 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In a sample of 160 Dutch twin pairs and their parents, we found that mothers of dizygotic twins had frequencies of the S and Z alleles at the protease inhibitor (Pi) locus that were 3 times higher than a control sample. Mothers of identical twins also had a higher frequency of S than controls. The S allele may thus both increase ovulation rate and enhance the success of multiple pregnancies. There was also an increased frequency of the S allele in fathers of dizygotic twins; however, this may be a secondary effect of assortative mating for family size (indicating by the number of siblings of the parents), for which a correlation of 0.2 was observed. Parents of dizygotic twins came from larger families than parents of monozygotic twins, but no effect of Pi type on family size was seen.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00220552
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral musculatur dystrophy (FSHD) (1994)
    Springer
    Human genetics 〈Berlin〉 94 (1994), S. 367-374 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Four DNA markers on the distal long arm of chromosome 4 have been analyzed for their linkage to facioscapulohumeral muscular dystrophy locus (FSHD) in a series of 16 Italian families. We found that, in two families, the disease is not linked to the 4q35 markers, indicating the presence of genetic heterogeneity among Italian FSHD families. Linkage analysis in the remaining families supports the order cen-D4S171-D4S163-D4S139-D4S810-FSHD-qter, in agreement with the physical map from the literature. EcoRI digestion and hybridization with the distal marker p13E-11 (D4S810) The locus D4S810 corresponding to probe p13E-11 has been recently renamed D4F104S1. detected DNA rearrangements in the affected members of both sporadic and familial cases of FSHD, with family-specific fragments ranging in size between 15 kb and 28 kb. In three sporadic FSHD cases, the appearance of a new “small” fragment not present in either parent was clearly associated with the development of FSHD disease. However, in the familial cases analyzed, we observed two recombinations between all four 4q35 markers and the disease locus in apparently normal subjects, leaving open the possibility of nonpenetrance of the FSHD mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201595
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  • 3
    Electronic Resource
    Electronic Resource
    Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 561-565 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Denaturing gradient gel electrophoresis (DGGE) was used in combination with the polymerase chain reaction (PCR) to detect sequence variations in the promoter region of the low density lipoprotein receptor (LDLR) gene. On the basis of calculated predictive melting properties we designed primers to amplify a 447-bp fragment of the promoter region from position-512 to -66, containing previously identified regulatory sequences. Using a primer with a GC-clamp in combination with restriction enzyme digestion, two melting domains could be analysed simultaneously. By oligonucleotide-directed mutagenesis artificial mutants were generated to optimize the conditions and to test the sensitivity of the method. All mutants were readily detected by electrophoresis in a 9% polyacrylamide gel containing a 10%–60% linear denaturing gradient. Using this method, we analysed DNA samples of 350 heterozygous familial hypercholesterolaemia (FH) patients. No mutations were detected, suggesting that mutations in the regulatory elements of the promoter sequence do not play a significant role in the etiology of FH.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00219185
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  • 4
    Electronic Resource
    Electronic Resource
    Genetics of urinary pepsinogen: A new hypothesis (1984)
    Springer
    Human genetics 〈Berlin〉 65 (1984), S. 385-390 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A new genetic model is proposed to explain the inheritance of the urinary pepsinogen (PG1) polymorphism. Each main fraction, 3, 4 and 5, in the multibanded electrophoretic pattern, is determined by its own specific gene, B, C and D respectively. The intensity ratio of the fractions is principally determined by the number of gene copies. Accordingly, the PG1 phenotypes are determined by gene combinations, haplotypes, some of which may be identical to alleles in previous one locus models. Some critical families, not interpretable using previous genetic models, are presented to support the hypothesis. Preliminary population data from the Netherlands are described. The molecular background of this polymorphism and its relevance for gastric (pre)malignancy is discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291564
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  • 5
    Electronic Resource
    Electronic Resource
    Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells (1986)
    Springer
    Human genetics 〈Berlin〉 74 (1986), S. 378-381 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Human transcobalamin II (TC2), a vitamin B12 binding serum protein, is synthesized and secreted into the medium by cells growing in vitro. Mouse-man somatic cell hybrids were analyzed in order to map the locus of TC2. The presence of human TC2 in the culture media was correlated with the results of genetic marker and chromosome analysis of the hybrid cells. Chromosome 22 showed 100% concordancy. However, chromosome 6 (90% concordancy) and chromosome 7 (96% concordancy) were not completely excluded. Meningioma cells obtained from patients heterozygous for TC2 showed a concomitant loss of one chromosome 22 and one of the TC2 alleles, strongly supporting the assignment to chromosome 22.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00280489
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  • 6
    Electronic Resource
    Electronic Resource
    Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions (1987)
    Springer
    Human genetics 〈Berlin〉 75 (1987), S. 180-187 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We are interested in the precise localization of various DNA probes on the short arm of chromosome 11 for our research on the aniridia-Wilms' tumor association (AWTA), assigned to region 11p13 (Knudson and Strong 1972; Riccardi et al. 1978). For this purpose we have screened lymphocyte DNA and material derived from somatic cell hybrids from individuals with constitutional 11p deletions with a range of available probes: D11S12; calcitonin/CGRP (CALC1/CALC2); insulin (INS); Harvey ras 1 (HRAS 1); beta-globin gene cluster (HBBC); human insulin-like growth factor 2 (IGF-2); parathyroid hormone (PTH); human pepsinogen A (PGA). Using this material, it has been possible to map all probes used, except insulin, outside the region 11p111-p15.1, resulting in an SRO (same regional overlap) of 11p15.1-p15.5 for most probes. We found an SRO for PGA of 11p111-q12 and an SRO for CALC2 of 11p15.1-p15.5 or 11p111-q12. We have localised the insulin gene to band 11p15.1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00591083
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  • 7
    Electronic Resource
    Electronic Resource
    Family and population studies on the human pepsinogen A multigene family (1989)
    Springer
    Human genetics 〈Berlin〉 82 (1989), S. 142-146 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Human pepsinogen A (PGA) displays highly polymorphic isozymogen patterns after polyacrylamide gel electrophoresis and activity staining. The patterns differ with respect to the presence and the relative intensity of the individual fractions. Family studies strongly suggest that these isozymogen patterns are encoded by allelic haplotypes, encompassing different numbers and types of PGA genes. In this paper, we confirm the essential features of this multigene model. We establish the relationship between the haplotypes and the corresponding isozymogen patterns by determination of the PGA polymorphism at both the DNA and the protein level in 117 Dutch individuals, 60 of whom were unrelated. The combination of HindIII and EcoRI restriction fragment length polymorphisms (RFLPs) has enabled us to define different haplotypes, which are shown to segregate within families. Most genes are characterized by their specific EcoRI fragments. The HindIII RFLP is in strong linkage disequilibrium with PGA genes showing strong expression of the relevant isozymogen. Although a general picture of the relationship between genotypes and phenotypes is emerging, there are exceptions, suggesting that rare haplotypes evolve by unique crossover events.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00284047
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  • 8
    Electronic Resource
    Electronic Resource
    The α1 antitrypsin variant PI*WFINNEYTOWN in a family of Caucasian origin (1985)
    Springer
    Human genetics 〈Berlin〉 69 (1985), S. 190-191 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary During a routine screening a slow moving variant PI WFINNEYTOWN was traced in a family of Caucasian origin. The variant is not identical to W SAL and W COL. W FIN was originally detected in an American family of different ethnic origin. It is suggested that heterogeneity exists at the gene level, which is not detectable with conventional methods at the protein level.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00293297
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  • 9
    Electronic Resource
    Electronic Resource
    Assignment of human pepsinogen A locus to the q12-pter region of chromosome 11 (1985)
    Springer
    Human genetics 〈Berlin〉 70 (1985), S. 337-340 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 0.9 kb cDNA fragment, corresponding to a large part of Rhesus monkey pepsinogen A mRNA, was used as probe for the chromosomal localization of the human pepsinogen A gene(s) using human-rodent somatic cell hybrids. Southern blot analysis of 14 human-Chinese hamster and three human-mouse cell hybrids, strongly indicates that the human PGA locus is on chromosome 11. The human-mouse hybrids, containing a translocation involving chromosome 11, allow sublocalization to the region q12-pter.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00295373
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  • 10
    Electronic Resource
    Electronic Resource
    The incidence of mini- and micro-satellite repetitive DNA in the canine genome (1994)
    Springer
    Theoretical and applied genetics 89 (1994), S. 403-406 
    Details
    ISSN: 1432-2242
    Keywords: Dog ; short tandem repeats Minisatellites ; Genetic markers
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract We have estimated the incidence of microand mini-satellites in the dog genome. A genomic phage library from canine liver, with an average insert size of 16 kb, was screened to detect potentially polymorphic microand mini-satellite sequences, which may be useful for the development of markers of inherited diseases, for fingerprinting, or for population genetics. Synthetic oligonucleotide probes were used to search for microsatellite sequences, and minisatellites were investigated with eight heterologous VNTR probes. (CA)n.(GT)n sequences were by far the most frequent, with a calculated average distance between consecutive loci of 42 kb. The average distance between loci of tri- or tetra-nucleotide repeats was about 330 kb. Mean inter-locus distances were 320 kb for (GGC)n, 205 kb for (GTG)n, 563 kb for (AGG)n, 320 kb for (TCG)n, 233 kb for (TTA)n, 384 kb for (CCTA)n, 368 kb for (CTGT)n, 122 kb for (TTCC)n, 565 kb for (TCTA)n, and 229 kb for (TAGG)n. Cross-hybridization with eight human minisatellite probes was found at average distances of 1400 kb; only one did not hybridize at all. We conclude that the di-, tri and tetra-nucleotide short tandem repeats, as well as some minisatellite sequences, are potentially useful as genetic markers, for mapping of the canine genome, and also for paternity testing and the analysis of population characteristics.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00225373
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