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Historic, demographic, and genetic evidence for increased population frequencies of CCR5Delta32 mutation in Croatian Island isolates after lethal 15th century epidemics

To assess the frequency of 32 base pair deletion in CCR5 (CCR5Delta32), which has been shown to confer resistance to HIV infection in a homozygous form, in 10 isolated island communities of Dalmatia, Croatia, with different histories of exposure to epidemics during and since the medieval period. In...

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Published in:Croatian medical journal 2009-02, Vol.50 (1), p.34-42
Main Authors: Biloglav, Zrinka, Zgaga, Lina, Smoljanović, Mladen, Hayward, Caroline, Polasek, Ozren, Kolcić, Ivana, Vitart, Veronique, Zemunik, Tatijana, Boraska, Vesna, Torlak, Vesela, Mulić, Rosanda, Ropac, Darko, Grković, Ivica, Rudan, Diana, Ristić, Smiljana, Barbalić, Maja, Campbell, Harry, Wright, Alan F, Rudan, Igor
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Language:English
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Summary:To assess the frequency of 32 base pair deletion in CCR5 (CCR5Delta32), which has been shown to confer resistance to HIV infection in a homozygous form, in 10 isolated island communities of Dalmatia, Croatia, with different histories of exposure to epidemics during and since the medieval period. In 2002, DNA analysis of 100 randomly selected individuals from each of the 10 isolated communities of 5 Croatian islands (Susak, Rab, Vis, Lastovo, and Mljet) showed high levels of 3-generational endogamy, indicating limited gene flow. Five of the communities were decimated by epidemics of unknown cause between 1449-1456, while the other 5 villages remained unaffected. Genotyping of the CCR5 gene was performed using the polymerase chain reaction method with primers flanking the region containing 32-bp deletion. The frequency of CCR5Delta32 in the 5 villages affected by the epidemic was 6.1-10.0%, and 1.0-3.8% in the 5 unaffected villages. The Delta32 mutation was found in 71 of 916 alleles among the individuals from the affected villages (7.5%), and in 24 of 968 alleles in unaffected villages (2.5%, chi(2)=27.3, P
ISSN:1332-8166