Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p

被引：43

作者：

Kelsell, RE

Evens, K

Gregory, CY

Moore, AT

Bird, AC

Hunt, DM

机构：

[1] UCL, INST OPHTHALMOL, INST MOL GENET, LONDON EC1V 9EL, ENGLAND

[2] ADDENBROOKES HOSP, DEPT OPHTHALMOL, CAMBRIDGE CB2 2QQ, ENGLAND

来源：

HUMAN MOLECULAR GENETICS | 1997年 / 6卷 / 04期

基金：

英国惠康基金;

关键词：

D O I：

10.1093/hmg/6.4.597

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：

We have performed genetic linkage analysis on a four generation British family with cone-rod dystrophy, Significant linkage to the disease gene was obtained with eight marker loci situated on chromosome 17p12-p13, A maximum two-point lod score of 5.93 with no recombination was obtained with marker locus D17S1844. Critical recombinants identified with flanking marker loci placed the disease gene between D17S796/D17S938 and D17S954, an interval estimated to be 8 cM in size, This new localisation for autosomal dominant cone-rod dystrophy (CORD6) overlaps with regions attributed previously to Leber's congenital amaurosis, central areolar choroidal dystrophy and dominant cone dystrophy, Given their differences in phenotype, the most plausible explanation would be that these different retinal disorders are caused by mutations in different genes mapping close together within the genome.

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页码：597 / 600

页数：4

相关论文

共 28 条

[1] A COMPUTER-PROGRAM TO MAKE LINKAGE ANALYSIS WITH LIPED AND LINKAGE EASIER TO PERFORM AND LESS PRONE TO INPUT ERRORS [J].

ATTWOOD, J ;

BRYANT, S .

ANNALS OF HUMAN GENETICS, 1988, 52 :259-259

[2] A GENE FOR AUTOSOMAL-DOMINANT PROGRESSIVE CONE DYSTROPHY (CORD5) MAPS TO CHROMOSOME 17P12-P13 [J].

BALCIUNIENE, J ;

JOHANSSON, K ;

SANDGREN, O ;

WACHTMEISTER, L ;

HOLMGREN, G ;

FORSMAN, K .

GENOMICS, 1995, 30 (02) :281-286

[3] CHROMOSOME MAPPING OF THE HUMAN ARRESTIN (SAG), BETA-ARRESTIN-2 (ARRB2), AND BETA-ADRENERGIC-RECEPTOR KINASE-2 (ADRBK2) GENES [J].

CALABRESE, G ;

SALLESE, M ;

STORNAIUOLO, A ;

STUPPIA, L ;

PALKA, G ;

DEBLASI, A .

GENOMICS, 1994, 23 (01) :286-288

[4]

Camuzat A, 1996, HUM GENET, V97, P798

[5] A GENE FOR LEBERS CONGENITAL AMAUROSIS MAPS TO CHROMOSOME 17P [J].

CAMUZAT, A ;

DOLLFUS, H ;

ROZET, JM ;

GERBER, S ;

BONNEAU, D ;

BONNEMAISON, M ;

BRIARD, ML ;

DUFIER, JL ;

GHAZI, I ;

LEOWSKI, C ;

WEISSENBACH, J ;

FREZAL, J ;

MUNNICH, A ;

KAPLAN, J .

HUMAN MOLECULAR GENETICS, 1995, 4 (08) :1447-1452

[6] USE OF A DNA POOLING STRATEGY TO IDENTIFY A HUMAN OBESITY SYNDROME LOCUS ON CHROMOSOME-15 [J].

CARMI, R ;

ROKHLINA, T ;

KWITEKBLACK, AE ;

ELBEDOUR, K ;

NISHIMURA, D ;

STONE, EM ;

SHEFFIELD, VC .

HUMAN MOLECULAR GENETICS, 1995, 4 (01) :9-13

[7] A comprehensive genetic map of the human genome based on 5,264 microsatellites [J].

Dib, C ;

Faure, S ;

Fizames, C ;

Samson, D ;

Drouot, N ;

Vignal, A ;

Millasseau, P ;

Marc, S ;

Hazan, J ;

Seboun, E ;

Lathrop, M ;

Gyapay, G ;

Morissette, J ;

Weissenbach, J .

NATURE, 1996, 380 (6570) :152-154

[8] GENETIC-LINKAGE OF CONE-ROD RETINAL DYSTROPHY TO CHROMOSOME 19Q AND EVIDENCE FOR SEGREGATION DISTORTION [J].

EVANS, K ;

FRYER, A ;

INGLEHEARN, C ;

DUVALLYOUNG, J ;

WHITTAKER, JL ;

GREGORY, CY ;

BUTLER, R ;

EBENEZER, N ;

HUNT, DM ;

BHATTACHARYA, S .

NATURE GENETICS, 1994, 6 (02) :210-213

[9] LOCALIZATION OF THE GENE ENCODING HUMAN PHOSPHATIDYLINOSITOL TRANSFER PROTEIN (PITPN) TO 17P13.3 - A GENE SHOWING HOMOLOGY TO THE DROSOPHILA RETINAL DEGENERATION B-GENE (RDGB) [J].

FITZGIBBON, J ;

PILZ, A ;

GAYTHER, S ;

APPUKUTTAN, B ;

DULAI, KS ;

DELHANTY, JDA ;

HELMKAMP, GM ;

YARBROUGH, LR ;

HUNT, DM .

CYTOGENETICS AND CELL GENETICS, 1994, 67 (03) :205-207

[10]

GREGORY CY, 1994, AM J HUM GENET, V55, P1061