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.
References
Chapelle A de la, Sistonen P, Lehväslaiho H, Ikkala E, Juvonen E (1993) Familial erythrocytosis genetically linked to the erythropoietin receptor gene. Lancet 341:82–84
Krantz SB (1991) Erythropoietin. Blood 77:419–434
Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multipoint linkage analysis in humans. Proc Natl Acad Sci USA 81: 3443–3446
Mohrenweiser HW, Tynan KM, Branscomb EW, Jong PJ de, Olsen A, Trask B, Carrano AV (1991) Development of an integrated genetic, functional and physical map of human chromosome 19. Cytogenet Cell Genet 58:2021
Noguchi CT, Bae Ks, Chin K, Wada Y, Schechter AN, Hankins WD (1991) Cloning of the human erythropoietin receptor gene. Blood 78:2548–2556
Penny LA, Forget BG (1991) Genomic organization of the human erythropoietin receptor gene. Genomics 11:974–980
Ropers HH, Pericak-Vance MA (1991) Report of the committee on the genetic constitution of chromosome 19. Cytogenet Cell Genet 58:751–784
Ropers HH, Pericak-Vance MA, Siciliano MJ, Mohrenweiser HW (1992) Report of the second international workshop on human chromosome 19 mapping. Cytogenet Cell Genet 60:88–95
Weber JL, Harley HG, Speer MC (1992) Chromosome 19. In: Acomprehensive genetic linkage map of the human genome. (NIH/CEPH collaborative linkage group) Science 258:67–86
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Sistonen, P., Träskelin, AL., Lehväslaiho, H. et al. Genetic mapping of the erythropoietin receptor gene. Hum Genet 92, 299–301 (1993). https://doi.org/10.1007/BF00244476
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DOI: https://doi.org/10.1007/BF00244476