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| A 3-BP DELETION IN THE RHODOPSIN GENE IN A FAMILY WITH AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA |
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| Author(s): INGLEHEARN CF, BASHIR R, LESTER DH, JAY M, BIRD AC, BHATTACHARYA SS |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 48 Issue: 1 Pages: 26-30 Published: JAN 1991 |
| Times Cited: 75 References: 24 |
| Abstract: Autosomal dominant retinitis pigmentosa (ADRP) has recently been linked to locus D3S47 (probe C17), with no recombination, in a single large Irish family. Other ADRP pedigrees have shown linkage at zero recombination, linkage with recombination, and no linkage, demonstrating genetic heterogeneity. The gene encoding rhodopsin, the rod photoreceptor pigment, is closely linked to locus D3S47 on chromosome 3q. A point mutation changing a conserved proline to histidine in the 23d codon of the gene has been demonstrated in affected members of one ADRP family and in 17 of 148 unrelated ADRP patients. We have sequenced the rhodopsin gene in a C17-linked ADRP family and have identified in the 4th exon an in-frame 3-bp deletion which deletes one of the two isoleucine monomers at codons 255 and 256. This mutation was not found in 30 other unrelated ADRP families. The deletion has arisen in the sequence TCATCAT-CAT, deleting one of a run of three x 3-bp repeats. The mechanism by which this occurred may be similar to that which creates length variation in so-called mini- and microsatellites. Thus ADRP is an extremely heterogeneous disorder which can result from a range of defects in rhodopsin and which can have a locus or loci elsewhere in the genome. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV NEWCASTLE UPON TYNE, DEPT HUMAN GENET, NEWCASTLE UPON TYNE NE1 7RU, TYNE & WEAR ENGLAND
2. MOORFIELDS EYE HOSP, DEPT CLIN OPHTHALMOL, LONDON WC1V 7AN, ENGLAND |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: ET188 |
| ISSN: 0002-9297 |
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