AN 8TH LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IS LINKED TO CHROMOSOME-17Q

被引：44

作者：

BARDIEN, S

EBENEZER, N

GREENBERG, J

INGLEHEARN, CF

BARTMANN, L

GOLIATH, R

BEIGHTON, P

RAMESAR, R

BHATTACHARYA, SS

机构：

[1] INST OPHTHALMOL,DEPT MOLEC GENET,LONDON EC1V 9EL,ENGLAND

[2] UNIV CAPE TOWN OBSERV,SCH MED,MRC,DEPT HUMAN GENET,MED GENET RES UNIT,CAPE TOWN 7925,SOUTH AFRICA

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 08期

基金：

英国惠康基金;

关键词：

D O I：

10.1093/hmg/4.8.1459

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：

Retinitis pigmentosa is one of the most common causes of severe visual handicap in middle to late life, Prior to this report, seven loci had previously been mapped for the autosomal dominant form of this disorder (adRP), We now report the identification of a novel adRP locus on chromosome 17q. To map the new locus, we performed linkage analysis with microsatellite markers in a large South African kindred. After exclusion of 13 RP candidate gene loci (including rhodopsin and peripherin-RDS), we obtained significant positive lod scores at zero recombination fraction (theta = 0) for D17S808 (Z = 4.63) and D17S807 (Z = 5.69), Multipoint analysis gave a maximum lod score of 8.28 between these two markers. From haplotype analysis, the disease locus lies in the interval between markers D17S809 and D17S942. Three candidate genes for retinal dystrophies map to this chromosomal region and these genes are currently being investigated for possible involvement with adRP in this family.

引用

页码：1459 / 1462

页数：4

共 34 条

[1] Rosenfeld R.J., McKusick V.A., Amberger J.S., Dryja T.P., Recent advances in the gene map of inherited eye disorders: Primary hereditary diseases of the retina, choroid and vitreous, J. Med. Genet., 31, pp. 903-915, (1994)
[2] McWilliam R., Farrar G.J., Kenna P., Bradley D.G., Humphries M.M., Sharp E.M., McConnell D.J., Lawler M., Sheils D., Ryan C., Stevens K., Daiger S.P., Humphries P., Autosomal dominant retinitis pigmentosa (ADRP): Localisation of an ADRP gene to the long arm of chromosome 3, Genomics, 5, pp. 619-622, (1989)
[3] Dryja J.P., McGee T.L., Reichel E., Hahn L.B., Cowley G.S., Yandell D.W., Sandberg M.A., Berson E.L., A point mutation of the rhodopsin gene in one form of retinitis pigmentosa, Nature, 343, pp. 364-366, (1990)
[4] Farrar G.J., Jordan S.A., Kenna R., Humphries M.M., Kumar-Singh R., McWilliam P., Allamand V., Sharp E., Humphries P., Autosomal dominant retinitis pigmentosa: Localisation of a disease gene (RP6) to the short arm of chromosome 6, Genomics, 11, pp. 870-874, (1991)
[5] Farrar G.J., Kenna P., Jordan S.A., Kumar-Singh R., Humphries M.M., Sharp E.M., Sheils D.M., Humphries P., A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa, Nature, 354, pp. 478-480, (1991)
[6] Blanton S.H., Heckenlively J.R., Cottingham A.W., Friedman J., Sadler L.A., Wagner M., Friedman L.H., Daiger S.P., Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8, Genomics, 11, pp. 857-869, (1991)
[7] Ingleheam C.F., Carter S.A., Keen T.J., Lindsey J., Stephenson A.M., Bashir R., Al-Maghtheh M., Moore A.T., Jay M., Bird A.C., Bhattacharya S.S., A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p, Nature Genet., 4, pp. 51-53, (1993)
[8] Jordan S.A., Farrar G.J., Kenna P., Humphries M.M., Sheils D.M., Kumar-Singh R., Sharp E.M., Soriano N., Ayuso C., Benitez J., Humphries P., Localisation of an autosomal dominant retinitis pigmentosa gene to chromosome 7q, Nature Genet., 4, pp. 54-58, (1993)
[9] Ai-Maghtheh M., Inglehearn C.F., Keen T.J., Evans K., Moore A.T., Jay M., Bird A.C., Bhattacharya S.S., Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19, Hum. Mol. Genet., 3, pp. 351-354, (1994)
[10] Greenberg J., Goliath R., Beighton P., Ramesar R., A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17, Hum. Mol. Genet., 3, pp. 915-918, (1994)

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