MULTIPOINT MAPPING OF THE CENTRAL CORE DISEASE LOCUS

被引:10
作者
SCHWEMMLE, S
WOLFF, K
PALMUCCI, LM
GRIMM, T
LEHMANNHORN, F
HUBNER, C
HAUSER, E
ILES, DE
MACLENNAN, DH
MULLER, CR
机构
[1] UNIV WURZBURG,BIOZENTRUM,INST HUMANGENET,W-8700 WURZBURG,GERMANY
[2] UNIV TURIN,IST CLIN MALATTIE SISTEMA NERVOSA,I-10124 TURIN,ITALY
[3] UNIV ULM,ANGEW PHYSIOL ABT,W-7900 ULM,GERMANY
[4] UNIV HAMBURG,KINDERKLIN EPPENDORF,W-2000 HAMBURG 20,GERMANY
[5] UNIV VIENNA,KINDERKLIN,A-1010 VIENNA,AUSTRIA
[6] UNIV HOSP NIJMEGEN,DEPT CELL BIOL & HISTOL,NIJMEGEN,NETHERLANDS
[7] UNIV TORONTO,BANTING & BEST DEPT MED RES,TORONTO M5S 1A1,ONTARIO,CANADA
关键词
D O I
10.1006/geno.1993.1302
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
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 θ = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at θ = 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. © 1995 Academic Press. All rights reserved.
引用
收藏
页码:205 / 207
页数:3
相关论文
共 19 条
  • [1] CENTRAL-CORE DISEASE AND MALIGNANT HYPERPYREXIA
    DENBOROUGH, MA
    DENNETT, X
    ANDERSON, RM
    [J]. BMJ-BRITISH MEDICAL JOURNAL, 1973, 1 (5848): : 272 - 273
  • [2] DEUFEL T, 1992, AM J HUM GENET, V50, P1151
  • [3] IDENTIFICATION OF A MUTATION IN PORCINE RYANODINE RECEPTOR ASSOCIATED WITH MALIGNANT HYPERTHERMIA
    FUJII, J
    OTSU, K
    ZORZATO, F
    DELEON, S
    KHANNA, VK
    WEILER, JE
    OBRIEN, PJ
    MACLENNAN, DH
    [J]. SCIENCE, 1991, 253 (5018) : 448 - 451
  • [4] A SUBSTITUTION OF CYSTEINE FOR ARGININE-614 IN THE RYANODINE RECEPTOR IS POTENTIALLY CAUSATIVE OF HUMAN-MALIGNANT HYPERTHERMIA
    GILLARD, EF
    OTSU, K
    FUJII, J
    KHANNA, VK
    DELEON, S
    DERDEMEZI, J
    BRITT, BA
    DUFF, CL
    WORTON, RG
    MACLENNAN, DH
    [J]. GENOMICS, 1991, 11 (03) : 751 - 755
  • [5] HAAN EA, 1990, HUM GENET, V86, P187
  • [6] HOGAN K, 1992, ANESTH ANALG, V75, P441
  • [7] HIGH-RESOLUTION PHYSICAL MAPPING OF 4 MICROSATELLITE REPEAT MARKERS NEAR THE RYR1 LOCUS ON CHROMOSOME-19Q13.1 AND APPARENT EXCLUSION OF THE MHS LOCUS FROM THIS REGION IN 2 MALIGNANT HYPERTHERMIA SUSCEPTIBLE FAMILIES
    ILES, DE
    SEGERS, B
    HEYTENS, L
    SENGERS, RCA
    WIERINGA, B
    [J]. GENOMICS, 1992, 14 (03) : 749 - 754
  • [8] EVIDENCE FOR LINKAGE OF THE CENTRAL CORE DISEASE LOCUS TO THE PROXIMAL LONG ARM OF HUMAN CHROMOSOME-19
    KAUSCH, K
    LEHMANNHORN, F
    JANKA, M
    WIERINGA, B
    GRIMM, T
    MULLER, CR
    [J]. GENOMICS, 1991, 10 (03) : 765 - 769
  • [9] KRIVOSICHORBER R, 1989, PRESSE MED, V18, P828
  • [10] LATHROP GM, 1984, AM J HUM GENET, V36, P460