MOLECULAR ANALYSIS AND GENETIC-MAPPING OF THE RHODOPSIN GENE IN FAMILIES WITH AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA

被引：66

作者：

BUNGE, S

WEDEMANN, H

DAVID, D

TERWILLIGER, DJ

VANDENBORN, LI

AULEHLASCHOLZ, C

SAMANNS, C

HORN, M

OTT, J

SCHWINGER, E

SCHINZEL, A

DENTON, MJ

GAL, A

机构：

[1] INSA,GENET HUMANA LAB,LISBON,PORTUGAL

[2] COLUMBIA UNIV,DEPT PSYCHIAT,NEW YORK,NY 10032

[3] NETHERLANDS OPTHALM RES INST,DEPT OPHTHALMOGENET,AMSTERDAM,NETHERLANDS

[4] FRAUENKLIN BERG,KLIN GENET ABT,STUTTGART,GERMANY

[5] UNIV ZURICH,INST MED GENET,CH-8006 ZURICH,SWITZERLAND

[6] UNIV OTTAWA,DEPT BIOCHEM,OTTAWA K1N 6N5,ONTARIO,CANADA

来源：

GENOMICS | 1993年 / 17卷 / 01期

关键词：

D O I：

10.1006/geno.1993.1309

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：

Eighty-eight patients/families with autosomal dominant retinitis pigmentosa (RP) were screened for rhodopsin mutations. Direct sequencing revealed 13 different mutations in a total of 14 (i.e., 16%) unrelated patients. Five of these mutations (T4K, Q28H, R135G, F220C, and C222R) have not been reported so far. In addition, multipoint linkage analysis was performed on two large families with autosomal dominant RP due to rhodopsin mutations by using five DNA probes from 3q21-q24. No tight linkage was found between the rhodopsin locus (RHO) and D3S47 (θ(max) = 0.08). By six-point analysis, RHO was localized in the region between D3S21 and D3S47, with a maximum lod score of 13.447 directly at D3S20. © 1994 Academic Press. All rights reserved.

引用

页码：230 / 233

页数：4

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