LOCALIZATION OF THE GENE FOR DOMINANT CYSTOID MACULAR DYSTROPHY ON CHROMOSOME 7P

被引:62
作者
KREMER, H [1 ]
PINCKERS, A [1 ]
VANDENHELM, V [1 ]
DEUTMAN, AF [1 ]
ROPERS, HH [1 ]
MARIMAN, ECM [1 ]
机构
[1] UNIV HOSP NIJMEGEN,DEPT OPHTHALMOL,NIJMEGEN,NETHERLANDS
关键词
D O I
10.1093/hmg/3.2.299
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
In a family with autosomal dominant cystoid macular dystrophy (DCMD) linkage was detected with the dinucleotide marker D7S435 on the short arm of chromosome 7. With markers flanking D7S435, the DCMD locus could be assigned to the interval D7S493-D7S526 at 7p15-p21, which spans approximately 20 cM. Three-point linkage yielded a maximal lod score of 9.46 and location score of 43.5 and suggested that DCMD is 5,5 cM proximal to D7S493. Recently, a retinitis pigmentosa (RP7) locus has been mapped in roughly the same area of chromosome 7. Genetic data of both studies described below, allow a region of overlap between the location of the DCMD and the RP7 gene between D7S435 and D7S526. Both genes being one and the same will further substantiate the close relationship between macular degeneration and retinitis pigmentosa.
引用
收藏
页码:299 / 302
页数:4
相关论文
共 25 条
  • [1] CALLEN DF, 1993, AM J HUM GENET, V52, P922
  • [2] DOMINANTLY INHERITED CYSTOID MACULAR EDEMA
    DEUTMAN, AF
    PINCKERS, AJLG
    AANDEKERK, AL
    [J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 1976, 82 (04) : 540 - 548
  • [3] FARRAR GJ, 1990, GENOMICS, V8, P35
  • [4] FERRELL RE, 1983, AM J HUM GENET, V35, P78
  • [5] FISHMAN GA, 1979, ANN OPHTHALMOL, V11, P21
  • [6] GASS JDM, 1973, ARCH OPHTHALMOL-CHIC, V90, P206
  • [7] HYMAN LG, 1983, AM J EPIDEMIOL, V118, P13
  • [8] A NEW LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME-7P
    INGLEHEARN, CF
    CARTER, SA
    KEEN, TJ
    LINDSEY, J
    STEPHENSON, AM
    BASHIR, R
    ALMAGHTHEH, M
    MOORE, AT
    JAY, M
    BIRD, AC
    BHATTACHARYA, SS
    [J]. NATURE GENETICS, 1993, 4 (01) : 51 - 53
  • [9] LATHROP GM, 1984, AM J HUM GENET, V36, P460
  • [10] LOEFFLER KU, 1992, OPHTHALMOLOGY, V99, P1385