The Frequency of Allele CCR5∆32 in a Serbian Population / UČESTALOST ALELA CCR5∆32 U SRPSKOJ POPULACIJI

• Published in: Journal of medical biochemistry 2013-10, Vol.32 (4), p.368-374
• Main Authors: Đorđević, Valentina, Timotijević, Gordana, Pruner, Iva, Radojković, Dragica, Milovanović, Boško, Miljković, Đorđe
• Format: Article
• Language: English
• Subjects: A32; CCR5; D32; Serbia; Srbija
• ISSN: 1452-8258; 1452-8266
• DOI: 10.2478/jomb-2013-0030

The mutant CCR5Δ32 allele confers resist- ance to HIV infection. Several hypotheses regarding its ori- gin and persistence in the human population have been proposed. It is assumed that the Δ32 mutation was intro- duced in Northern or Eastern Europe and that it spread to the south. Although the frequency of CCR5Δ32 was deter- mined in numerous European nations and regions, further data are needed to complete the puzzle of CCR5Δ32 dis- tribution within the continent. To this end, CCR5Δ32 frequency was determined in a Serbian population (sample size 352). DNA was extracted from peripheral whole blood and polymerase chain reaction specific for CCR5 gene was performed. A reaction product of 263 bp was obtained from the wild- -type CCR5 sequence and a product of 231 bp was ob- tained from the truncated CCR5Δ32 sequence. Overall allele frequency of CCR5Δ32 is 4.55%; 0.57% of individuals in the examined population are homo- zygous and 8.52% are heterozygous for CCR5Δ32. The determined frequency of the CCR5Δ32 allele in a Serbian population is unexpectedly low, consid- ering ethnically related populations. Keywords: CCR5, Δ32, Serbia. Nosioci alela CCR5Δ32 su relativno rezistentní na infekciju HIV-om. Postoji nekoliko hipoteza o poreklu i održanju ovog alela u ljudskoj populaciji. Pretpostavlja se da je mutacija A32 nastala u populaciji severne ili istočne Evrope i da se potom proširila ka jugu. lako je učestalost CCR5Δ32 odredena u mnogim evropskim populacijama, dodatni podaci su neophodni za formiranje sveobuhvatne slike o distribuciji CCR5Δ32 u Evropi. Zbog toga smo u našoj študiji odredili učestalost CCR5Δ32 u srpskoj popu- laciji, za koju do ovog rada nisu postojali takvi podaci. DNK je izolovana iz periferne krvi 352 osobe. U reakciji lančanog umnožavanja koriščeni su prajmeri spe- cifični za gen CCR5. Dobijen je proizvod od 263 bp na osnovu matrice »wild type«, sekvence CCR5 gena, a proiz- vod od 231 bp na osnovu okrnjene sekvence gena CCR5 (CCR5A32). Ukupna učestalost alela CCR5Δ32 u srpskoj populaciji iznosi 4,55%. Od ukupnog broja analiziranih osoba, identifiko- vano je 8,52% heterozigotnih i 0,57% homozigotnih nosila- ca za ovaj alel. Utvrdená učestalost alela CCR5Δ32 u srpskoj populaciji je neočekivano niska, u poredenju sa učestalošču u ostalim slovenskim populacijama.