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Title: A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa

ROM1 is a 351-amino-acid, 37-kDa outer segment membrane protein of rod photoreceptors. ROM1 is related to peripherin/RDS, another outer segment membrane protein found in both rods and cones. The precise function of ROM1 or peripherin/RDS is not known, but they have been suggested to play important roles in the function and/or structure of the rod photoreceptor outer segment disks. A recent report implicated ROM1 in disease by suggesting that RP can be caused by a heterozygous null mutation in ROM1 but only in combination with another heterozygous mutation in peripherin/RDS. Screening of the ROM1 gene using polymerase chain reaction amplification, denaturing gradient gel electrophoresis, and direct DNA sequencing identified the same heterozygous putative null mutation in a family with RP.
Authors:
; ;  [1]
  1. Univ. of Miami School of Medicine, FL (United States) [and others
Publication Date:
OSTI Identifier:
114857
Resource Type:
Journal Article
Resource Relation:
Journal Name: Genomics; Journal Volume: 27; Journal Issue: 2; Other Information: PBD: 20 May 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; EYES; HEREDITARY DISEASES; GENE MUTATIONS; DETECTION