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  • 1
    Electronic Resource
    Electronic Resource
    Choroideremia: linkage analysis with physically mapped close DNA-markers (1991)
    Springer
    Human genetics 〈Berlin〉 87 (1991), S. 348-352 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We report linkage studies in 18 choroideremia (TCD) families using four closely linked polymorphic markers. Probe pZ11, which is known to be deleted in several unrelated patients with TCD, showed no recombinations (z max 15.63 at θ = 0.00). In contrast, one recombination was observed with DXS367, which is also physically very close to TCD. Loci DXS95 and DXYS69 each showed more than one recombination with TCD. Moreover, these analyses revealed a double crossover between TCD and DXYS1, changing the previously reported very close linkage to a recombination fraction of 0.04 with a lod score of 9.93. Multipoint linkage analysis placed TCD proximal to DXS95-DXYS69 and very close to DXS367-pZ11 with almost identical multipoint lod score maxima either proximal to DXS367 (z max= 23.43) or proximal to pZ11 (z max=23.36). These results provide a refined linkage map around TCD and will also be useful in DNA diagnostics of the disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00200918
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  • 2
    Electronic Resource
    Electronic Resource
    Deletion mapping of stature determinants on the long arm of the Y chromosome (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 283-286 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A gene contributing to human growth has previously been tentatively mapped to the long arm of the Y chromosome. In the present study, recently developed sequence-tagged site markers covering the entire Y chromosome were used to define deletion breakpoints in 15 males with partial deletions of Yq. By correlating the height of these individuals with their deletion breakpoints, we located a region whose presence or absence has a marked effect on stature. This critical region comprises the most proximal portion of the long arm, extending from marker sY78 in interval 4B to marker sY94 in interval 5G of the proximal long arm.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00225194
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  • 3
    Electronic Resource
    Electronic Resource
    Genetic mapping of the erythropoietin receptor gene (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 299-301 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We describe a novel, highly informative (polymorphism information content, PIC, = 0.86) simple sequence repeat polymorphism at the 5′ end of the gene encoding the human erythropoietin receptor (EPOR) previously assigned to 19pl3.2 by in situ hybridization. Fourteen different allelic size variants were identified in 12 families of the CEPH (Centre d'Etude du Polymorphisme Humain) family panel of 40 families. In pairwise linkage 16 of the 65 chromosome 19 markers reported to the CEPH database gave a lod score exceeding 3.0 when tested against EPOR. The most likely location of EPOR within a framework of 10 markers including orientation and information on reported physical assignments was pter-[INSR-D1 9S177-D19S176]-D 19S24-LDLR-EPOR-cen-D-19S7-D19S49-D19S75-D19S47-APOC2-qter, placing EPOR as the most proximal of the tested loci on the short arm. On an 11-point map the position and order for all other loci except INSR were supported by the data with odds exceeding 1,000:1. The polymorphism at the 5′ end of EPOR should provide a useful landmark marker for future mapping studies of this region.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00244476
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  • 4
    Electronic Resource
    Electronic Resource
    A rare reciprocal translocation (12;21) segregating for nine generations (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 509-512 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract An autosomal reciprocal translocation (12;21) was found in five seemingly unrelated families in Finland. Three families had had multiple spontaneous abortions and two families had a child with Down's syndrome. The genealogies of the five families were traced using population registries, and four families were found to have a common ancestor born in 1752. Kinship to the fifth family could not be established but its ancestors were traced back to the same rural parishes as those of the four other families. The translocation segregated at the same frequency as normal chromosomes. A statistically insignificant increase in spontaneous abortions was detected when the matings of translocation carriers were compared with non-carrier matings. The increase may however be clinically significant. These results permit more accurate counselling in these and similar translocation families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00216460
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  • 5
    Electronic Resource
    Electronic Resource
    Genetic homogeneity of cartilage-hair hypoplasia (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 157-160 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short stature and hypoplasia of the hair. Associated pleiotropic features include deficient erythrogenesis, impaired T-cell mediated immunity, Hirschsprung's disease, and an increased risk of malignancies. CHH is most prevalent among the Old Order Amish in the United States and among the Finns, but sporadic families have been described among many other populations. We have previously mapped the gene for CHH to the short arm of chromosome 9 in Finnish and Amish families. The CHH locus resides close to D9S163 within an interval of 1.5 cM flanked by D9S165 and D9S50. In order to investigate the genetic homogeneity of CHH in various populations, we studied nine families with no genealogical connections to either Amish or Finns. No recombinants were detected between the CHH gene and any of the three closest marker loci studied, suggesting that CHH in these families results from mutation(s) at the same locus as in the Amish and Finnish families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00209394
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  • 6
    Electronic Resource
    Electronic Resource
    PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 668-674 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Seven phenotypically homogeneous Mediterranean myoclonus families were studied using DNA markers from the genetically defined EPM1 region on chromosome 21. No recombinations between the disease phenotype and the markers studied were detected. Within the EPM1 region, the highest lod score value of 5.07 (at Θ = 0.00) was reached at locus PFKL. Significant allelic association (P = 0.02) between the disease mutation and PFKL was detected suggesting a founder effect in Mediterranean myoclonus. However, haplotype data using four marker loci residing within 300kb of each other and of EPM1 suggest the occurrence of more than one mutation. The data are compatible with Mediterranean myoclonus being caused by mutations in the EPM1 gene and strengthen the concept that a large subset of progressive myoclonus epilepsies conforms with Unverricht-Lundborg disease and that this subset is an etiologically homogeneous entity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201568
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  • 7
    Electronic Resource
    Electronic Resource
    Cystic fibrosis in Finland: a molecular and genealogical study (1989)
    Springer
    Human genetics 〈Berlin〉 83 (1989), S. 20-25 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The incidence of cystic fibrosis (CF) in Finland is one tenth that in other Caucasian populations. To study the genetics of CF in Finland, we used a combined molecular and genealogical approach. Out of the 20 Finnish families with a living CF patient, 19 were typed for eight closely linked restriction fragment length polymorphisms (RFLP) at the MET, D7S8, and D7S23 loci. The birthplaces of the parents and grandparents were traced using population registries. Allele and haplotype frequencies in Finland are similar to those of other European and North American populations, but are modified by sampling: two regional CF gene clusters, evidently the results of a founder effect, were identified. Generally, the gene was evenly distributed over the population, carrier frequency being estimated at approximately 1.3%. We conclude that CF in Finland is caused by the common Caucasian mutation(s), and that the low frequency of the gene can be explained by a negative sampling effect and genetic drift.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274141
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  • 8
    Electronic Resource
    Electronic Resource
    DXS26 (HU16) is located in Xq21.1 (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 117-120 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We have localized a single-copy DNA probe, HU16 (locus DXS26), to Xq21.1. The probe was isolated from a human-mouse hybrid X;13 library and mapped with human-mouse hybrids containing different portions of the human X chromosome and DNA from male patients with different X-chromosomal deletions. The following order of loci is proposed: Xcen-(DXS72, DXS169)-(DXS232,DXS26)-DXS121-DXS233-DXS165 TCD-DXS95-DXYSl-Xqter. HU16 will be useful in the study of the putative genes that reside in Xq21 and whose defects lead to deafness and mental retardation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00276335
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  • 9
    Electronic Resource
    Electronic Resource
    Cystic fibrosis mutation ΔF508 in Finland: other mutations predominate (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 413-415 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The frequency of mutation ΔF508 was determined in all 20 Finnish cystic fibrosis (CF) families with living affected children (19 with pancreatic insufficiency). ΔF508 was detected in 18 out of 40 CF chromosomes (45%). At least two different mutations associated with pancreatic insufficiently have occurred in a rare haplotype defined by XV2c, CS.7, KM19 alleles 1 2 2. Geographical clustering of ΔF508 and other mutations suggested that a founder effect and genetic drift have influenced the frequency of mutations causing CF in Finland.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02428286
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  • 10
    Electronic Resource
    Electronic Resource
    Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region (1991)
    Springer
    Human genetics 〈Berlin〉 86 (1991), S. 599-603 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary To provide a more precise genetic map of the p22.3–p21.2 region on the short arm of the human X chromosome, we performed multilocus linkage studies in an expanded database including 31 retinoschisis families and 40 normal families. Twelve loci from this region were examined. Although significant lod scores were observed between various pairs of markers by two-point linkage analysis, the confidence limits were found to be broad. The most likely gene order on the basis of multilocus analysis was Xpter-DXS89-DXS85-DXS16-(DXS207, DXS43)-DXS274-(DXS41, DXS92)-ZFX-DXS164-Xcen. All other alternative orders were excluded by odds of at least 40∶1.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201548
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