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Wednesday, 24 May 2017 12:22

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

Written by Elvira Velardi et al.
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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.

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