ASSOCIATION OF THREE POLYMORPHISMS IN RP1 HOTSPOT REGION IN SICILIAN PATIENTS WITH RETINITIS PIGMENTOSA: PRELIMINARY DATA

Rheumatoid Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy affecting peripheral visual field and usually culminates in complete blindness. Among mutations in 73 genes implicated in RP pathogenesis, those in RP1 gene are inherited in autosomal recessive or dominant fashion. I...

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Bibliographic Details
Published inEuromediterranean biomedical journal Vol. 12; no. 18; pp. 87 - 90
Main Author Elvira Velardi
Format Journal Article
LanguageEnglish
Published Associazione Italiana Giovani Medici 01.05.2017
Subjects
polymorphisms
Retinitis Pigmentosa
RP1
Sicily
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Summary:Rheumatoid Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy affecting peripheral visual field and usually culminates in complete blindness. Among mutations in 73 genes implicated in RP pathogenesis, those in RP1 gene are inherited in autosomal recessive or dominant fashion. In RP Sicilian patients, we detected 3 polymorphisms in RP1 exon 4 hotspot region, not known to be associated with RP disease. Here, their frequency in Sicilian populations was assayed in order to detect possible association with RP. Samples from 220 unrelated healthy donors born and living in Sicily for at least two generations and 50 RP patients from Messina were screened. Frequencies of all three polymorphisms in RP patients from Messina were about twice those observed in the healthy controls from the same town and the overall Sicilian population. An association between 3 polymorphisms and RP was suggested, although their role in other related disorders cannot be excluded.
ISSN:2279-7165
2279-7165
DOI:10.3269/1970-5492.2017.12.18