NORTH-CAROLINA MACULAR DYSTROPHY IS ASSIGNED TO CHROMOSOME-6

被引:98
作者
SMALL, KW
WEBER, JL
ROSES, A
LENNON, F
VANCE, JM
PERICAKVANCE, MA
机构
[1] DUKE UNIV,DEPT OPHTHALMOL,DURHAM,NC 27706
[2] MED UNIV S CAROLINA,DEPT OPHTHALMOL,CHARLESTON,SC 29425
[3] MARSHFIELD CLIN FDN MED RES & EDUC,MARSHFIELD,WI 54449
关键词
D O I
10.1016/0888-7543(92)90141-E
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
North Carolina macular dystrophy (NCMD) is an autosomal dominant macular dystrophy causing impaired central vision at an early age, is completely penetrant, and is present in a single large family. With the development of the hypervariable microsatellite (CA repeats) markers in the human genome, it was possible to relatively rapidly screen most of the genome for linkage to the NCMD gene. After utilizing 124 genetic markers, which excluded over 95% of the human genome, three Marshfield microsatellites located at 6q13-q21 were linked to the NCMD locus. Marshfield marker (MFD) 131 gave a lod score of Z(θ̂) = 4.36 at θ = 0.137; MFD 171 gave a Z(θ̂) = 8.42 at θ = 0.004; and MFD 97 gave a Z(θ̂) = 13.10 at θ = 0.017. Other retinal diseases have been reported on 6q stressing the importance of this region and possibly suggesting that these diseases may be allelic or located in part of a large macular gene family. Locating and characterizing the NCMD gene may be an important step in understanding this group of maculopathies as well as age-related macular degeneration (AMD), a common cause of blindness in the elderly. © 1992.
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页码:681 / 685
页数:5
相关论文
共 25 条
[1]   REPORT OF THE COMMITTEE ON METHODS OF LINKAGE ANALYSIS AND REPORTING [J].
CONNEALLY, PM ;
EDWARDS, JH ;
KIDD, KK ;
LALOUEL, JM ;
MORTON, NE ;
OTT, J ;
WHITE, R .
CYTOGENETICS AND CELL GENETICS, 1985, 40 (1-4) :356-359
[2]   CHROMOSOME ASSIGNMENTS OF GENES IN MAN USING MOUSE-HUMAN SOMATIC-CELL HYBRIDS - MITOCHONDRIAL SUPEROXIDE-DISMUTASE (INDOPHENOL OXIDASE-B, TETRAMERIC) TO CHROMOSOME-6 [J].
CREAGAN, R ;
TISCHFIELD, J ;
RICCIUTI, F ;
RUDDLE, FH .
HUMANGENETIK, 1973, 20 (03) :203-209
[3]  
FERRELL RE, 1983, AM J HUM GENET, V35, P78
[4]  
FETKENHOUR CL, 1976, AM J OPHTHALMOL, V8, P745
[5]   NEW DOMINANT PROGRESSIVE FOVEAL DYSTROPHY [J].
FRANK, HR ;
LANDERS, MB ;
WILLIAMS, RJ ;
SIDBURY, JB .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 1974, 78 (06) :903-916
[6]  
GASS JDM, 1987, STEREOSCOPIC ATLAS M, P98
[7]   REPLICATION PATTERN OF X CHROMOSOMES IN 3 X-AUTOSOMAL TRANSLOCATIONS [J].
HAGEMEIJER, A ;
HOOVERS, J ;
SMIT, EME ;
BOOTSMA, D .
CYTOGENETICS AND CELL GENETICS, 1977, 18 (06) :333-348
[8]   PROGRESSIVE CONE DYSTROPHY ASSOCIATED WITH LOW ALPHA-L-FUCOSIDASE ACTIVITY IN SERUM AND LEUKOCYTES [J].
HAYASAKA, S ;
NAKAZAWA, M ;
OKABE, H ;
MASUDA, K ;
MIZUNO, K .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 1985, 99 (06) :681-685
[9]  
HAYNES C S, 1988, American Journal of Human Genetics, V43, pA146
[10]   CENTRAL AREOLAR PIGMENT EPITHELIAL DYSTROPHY [J].
HERMSEN, VM ;
JUDISCH, GF .
OPHTHALMOLOGICA, 1984, 189 (1-2) :69-&