Multipoint mapping of the central core disease locus

Journal Article · Thu Jul 01 00:00:00 EDT 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1302· OSTI ID:7035609

Schwemmle, S; Wolff, K; Grimm, T; Mueller, C R ^[1]; Palmucci, L M ^[2]; Lehmann-Horn, F ^[3]; Huebner, Ch ^[4]; Hauser, E ^[5]; Iles, D E ^[6]; MacLennan, D H ^[7]

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1. Institut fuer Humangenetik der Universitaet, Wuerzburg (Germany)
2. Universita di Torino (Italy)
3. Abt. Angewandte Physiologie der Universitaet, Ulm (Germany)
4. Universitaetskinderklinik Eppendorf, Hamburg (Germany)
5. Universitaetskinderklinik Wien (Austria)
6. Univ. Hospital Nijmegen (Netherlands)
7. Univ. of Toronto (Canada)

A linkage analysis with 12 DNA markers from proximal 19q was performed in eight families with central core disease (CCO). Two-point analysis gave a peak lod score of Z = 4.95 at [theta] = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at [theta] = 0.00 for the ryanodine receptor (RYR1) candidate gene. Multipoint linkage data place the CCO locus at 19q13.1, flanked proximally by D19S191/D19S28 and distally by D19S47. This map location includes the RYR1 gene. The results of the linkage study present no evidence for genetic heterogeneity of CCO. 19 refs., 2 figs., 1 tab.

• OSTI ID: 7035609
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 17:1; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
DISEASES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 19
HUMAN CHROMOSOMES
MAPPING
MUSCLES