Journal article
Polymorphisms and rare sequence variants at the ROM1 locus
Human molecular genetics, Vol.2(11), pp.1975-1977
1993
DOI: 10.1093/hmg/2.11.1975
PMID: 7904211
Abstract
Rom-1 is an integral membrane protein of the rod photoreceptor outer segment. The ROM1 gene is located on human chromosome 11q13, a region to which the loci of four degenerative retinopathies have been mapped. To identify alleles of ROM1, we have screened the DNA of 57 controls and 180 patients with inherited retinopathies. Six ROM1 polymorphisms were identified: two in non-coding sequences (C-7T, T insertion 966/967), two substitutions (Ala118Gly, Arg223Arg), and two RFLPs outside the transcription unit, detected with BcII and Hind III. One rare sequence variant (Arg229His) was found in two adRP probands; in the one family studied the allele was discordant with the disease. A second rare variant (Ala265Thr) was found in both an adRP family and a control; a third rare variant (Met271Thr) was present only in a control family. These polymorphisms will be useful in the evaluation of ROM1 as a candidate gene in inherited retinal diseases. The recognition of the rare variants will prevent their misassignment as disease-causing mutations.
Details
- Title: Subtitle
- Polymorphisms and rare sequence variants at the ROM1 locus
- Creators
- Roger A BascomLin LiuPeter HumphriesGerald A FishmanJeffrey C MurrayRoderick R Mcinnes
- Resource Type
- Journal article
- Publication Details
- Human molecular genetics, Vol.2(11), pp.1975-1977
- DOI
- 10.1093/hmg/2.11.1975
- PMID
- 7904211
- NLM abbreviation
- Hum Mol Genet
- ISSN
- 0964-6906
- eISSN
- 1460-2083
- Language
- English
- Date published
- 1993
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025438902771
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