Učestalost alela CCR5Δ32 u srpskoj populaciji

Abstract

Background: The mutant CCR5Δ32 allele confers resistance to HIV infection. Several hypotheses regarding its origin and persistence in the human population have been proposed. It is assumed that the Δ32 mutation was introduced in Northern or Eastern Europe and that it spread to the south. Although the frequency of CCR5Δ32 was determined in numerous European nations and regions, further data are needed to complete the puzzle of CCR5Δ32 distribution within the continent. Methods: 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 wild­type CCR5 sequence and a product of 231 bp was obtained from the truncated CCR5Δ32 sequence. Results: Overall allele frequency of CCR5Δ32 is 4.55%; 0.57% of individuals in the examined population are homozygous and 8.52% are heterozygous for CCR5Δ32. Conclusions: The determined frequency of the CCR5Δ32 allele in a Serbian population is unexpectedly low, considering ethnically related populations.

Uvod: Nosioci alela CCR5Δ32 su relativno rezistentni na infekciju HIV-om. Postoji nekoliko hipoteza o poreklu i održanju ovog alela u ljudskoj populaciji. Pretpostavlja se da je mutacija Δ32 nastala u populaciji severne ili istočne Evrope i da se potom proširila ka jugu. Iako je učestalost CCR5Δ32 određena u mnogim evropskim populacijama, dodatni podaci su neophodni za formiranje sveobuhvatne slike o distribuciji CCR5Δ32 u Evropi. Zbog toga smo u našoj studiji odredili učestalost CCR5Δ32 u srpskoj populaciji, za koju do ovog rada nisu postojali takvi podaci. Metode: DNK je izolovana iz periferne krvi 352 osobe. U reakciji lančanog umnožavanja korišćeni su prajmeri specifični za gen CCR5. Dobijen je proizvod od 263 bp na osnovu matrice 'wild type', sekvence CCR5 gena, a proizvod od 231 bp na osnovu okrnjene sekvence gena CCR5 (CCR5Δ32). Ukupna učestalost alela CCR5Δ32 u srpskoj populaciji iznosi 4,55%. Rezultati: Od ukupnog broja analiziranih osoba, identifikovano je 8,52% heterozigotnih i 0,57% homozigotnih nosilaca za ovaj alel. Zaključak: Utvrđena učestalost alela CCR5Δ32 u srpskoj populaciji je neočekivano niska, u poređenju sa učestalošću u ostalim slovenskim populacijama.