COMPARISON OF THE MYOTONIC-DYSTROPHY ASSOCIATED CTG REPEAT IN EUROPEAN AND JAPANESE POPULATIONS

被引:91
作者
DAVIES, J
YAMAGATA, H
SHELBOURNE, P
BUXTON, J
OGIHARA, T
NOKELAINEN, P
NAKAGAWA, M
WILLIAMSON, R
JOHNSON, K
MIKI, T
机构
[1] CHARING CROSS & WESTMINSTER MED SCH,DEPT ANAT,ST DUNSTANS RD,LONDON W6 8RP,ENGLAND
[2] OSAKA UNIV,SCH MED,DEPT GERIATR MED,SUITA,OSAKA 565,JAPAN
[3] NATL PUBL HLTH INST,MED GENET LAB,SF-00280 HELSINKI 28,FINLAND
[4] KAGOSHIMA UNIV,FAC MED,DEPT INTERNAL MED 3,KAGOSHIMA 890,JAPAN
[5] ST MARYS HOSP,IMPERIAL COLL,SCH MED,DEPT BIOCHEM & MOLEC GENET,LONDON,ENGLAND
关键词
D O I
10.1136/jmg.29.11.766
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Gene amplification using polymerase chain reaction (PCR) was carried out on DNA samples from a total of 92 normal subjects and S2 subjects with myotonic dystrophy (DM) from European and Japanese populations, to determine the copy number of the CTG repeat associated with DM for each group. In the two populations, the number of repeats on normal chromosomes only were compared, as CTG copy number on DM chromosomes was difficult to determine by PCR alone. In this study, normal chromosomes were found which had as many as 35 copies of the repeat, which is larger than the normal range reported previously but still does not overlap with the repeat number associated with DM pathology, which is at least 50 copies. Using data from normal chromosomes from unrelated subjects, the frequencies of five, 11, and 13 copies of the CTG repeat were found to be significantly different between the two populations, with five and 11 copies more commonly seen in the European population and 13 copies in the Japanese population. This difference may be the result of natural divergence of the normal chromosomes between the population groups.
引用
收藏
页码:766 / 769
页数:4
相关论文
共 27 条
  • [1] ETHNIC DISTRIBUTION OF MYOTONIC-DYSTROPHY GENE
    ASHIZAWA, T
    EPSTEIN, HF
    [J]. LANCET, 1991, 338 (8767) : 642 - 643
  • [2] CLONING OF THE ESSENTIAL MYOTONIC-DYSTROPHY REGION AND MAPPING OF THE PUTATIVE DEFECT
    ASLANIDIS, C
    JANSEN, G
    AMEMIYA, C
    SHUTLER, G
    MAHADEVAN, M
    TSILFIDIS, C
    CHEN, C
    ALLEMAN, J
    WORMSKAMP, NGM
    VOOIJS, M
    BUXTON, J
    JOHNSON, K
    SMEETS, HJM
    LENNON, GG
    CARRANO, AV
    KORNELUK, RG
    WIERINGA, B
    DEJONG, PJ
    [J]. NATURE, 1992, 355 (6360) : 548 - 551
  • [3] BOTSTEIN D, 1980, AM J HUM GENET, V32, P314
  • [4] MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER
    BROOK, JD
    MCCURRACH, ME
    HARLEY, HG
    BUCKLER, AJ
    CHURCH, D
    ABURATANI, H
    HUNTER, K
    STANTON, VP
    THIRION, JP
    HUDSON, T
    SOHN, R
    ZEMELMAN, B
    SNELL, RG
    RUNDLE, SA
    CROW, S
    DAVIES, J
    SHELBOURNE, P
    BUXTON, J
    JONES, C
    JUVONEN, V
    JOHNSON, K
    HARPER, PS
    SHAW, DJ
    HOUSMAN, DE
    [J]. CELL, 1992, 68 (04) : 799 - 808
  • [5] DETECTION OF AN UNSTABLE FRAGMENT OF DNA SPECIFIC TO INDIVIDUALS WITH MYOTONIC-DYSTROPHY
    BUXTON, J
    SHELBOURNE, P
    DAVIES, J
    JONES, C
    VANTONGEREN, T
    ASLANIDIS, C
    DEJONG, P
    JANSEN, G
    ANVRET, M
    RILEY, B
    WILLIAMSON, R
    JOHNSON, K
    [J]. NATURE, 1992, 355 (6360) : 547 - 548
  • [6] GENETIC-VARIATION AT 5 TRIMERIC AND TETRAMERIC TANDEM REPEAT LOCI IN 4 HUMAN-POPULATION GROUPS
    EDWARDS, A
    HAMMOND, HA
    JIN, L
    CASKEY, CT
    CHAKRABORTY, R
    [J]. GENOMICS, 1992, 12 (02) : 241 - 253
  • [7] AN UNSTABLE TRIPLET REPEAT IN A GENE RELATED TO MYOTONIC MUSCULAR-DYSTROPHY
    FU, YH
    PIZZUTI, A
    FENWICK, RG
    KING, J
    RAJNARAYAN, S
    DUNNE, PW
    DUBEL, J
    NASSER, GA
    ASHIZAWA, T
    DEJONG, P
    WIERINGA, B
    KORNELUK, R
    PERRYMAN, MB
    EPSTEIN, HF
    CASKEY, CT
    [J]. SCIENCE, 1992, 255 (5049) : 1256 - 1258
  • [8] FU YH, 1991, CELL, V67, P1
  • [9] HARLEY H, 1991, AM J HUM GENET S, V49, pA1916
  • [10] EXPANSION OF AN UNSTABLE DNA REGION AND PHENOTYPIC VARIATION IN MYOTONIC-DYSTROPHY
    HARLEY, HG
    BROOK, JD
    RUNDLE, SA
    CROW, S
    REARDON, W
    BUCKLER, AJ
    HARPER, PS
    HOUSMAN, DE
    SHAW, DJ
    [J]. NATURE, 1992, 355 (6360) : 545 - 546