Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients

Citation
V. Kucinskas et al., Molecular genetic study of autosomal dominant retinitis pigmentosa in Lithuanian patients, HUMAN HERED, 49(2), 1999, pp. 71-74
Citations number
17
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN HEREDITY
ISSN journal
0001-5652 → ACNP
Volume
49
Issue
2
Year of publication
1999
Pages
71 - 74
Database
ISI
SICI code
0001-5652(1999)49:2<71:MGSOAD>2.0.ZU;2-Z
Abstract
Lithuanian patients with visual problems were clinically examined for retin itis pigmentosa (RP). A total of 33 unrelated families with autosomal domin ant RP (adRP) were identified. Screening for mutations in the rhodopsin (RH O) and peripherin/RDS (RDS) genes was performed using DNA heteroduplex anal ysis. Direct DNA sequencing in the cases of heteroduplex formation showed t he presence of the following mutations and polymorphisms in 14 adRP patient s: RHO gene - Lys248Arg (1 case), and Pro347Leu (2 cases); RDS gene - Glu30 4Gln (12 cases), Lys310Arg (5 cases), and Gly338Asp (12 cases). The presenc e of these mutations (except Lys248Arg in the RHO gene) was confirmed by re levant restriction enzyme digestion. The frequency of the RDS gene mutation s Glu304Gln and Gly338Asp was estimated to be 36.4%, while mutation Lys310A rg was less frequent (15.2%), These 3 RDS gene mutations appear to be polyp eptide polymorphisms not related to adRP.