Naslov
The prevalence and genetic analysis of the glucose-6-phosphate dehydrogenase deficiency in a southern Croatia

Autori
Krželj, Vjekoslav ; Jakšić, Jasminka ; Unić, Ivana ; Markić, Joško ; Radonić, Marija ; Pavlov, Neven ; Marušić, Eugenija ; Karaman, Ksenija ; Terzić, Janoš

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
Paediatria Croatica / Barišić, Ingeborg - Zagreb : Klinika za dječje bolesti, 2009, 4-4

Skup
8th Balkan Meeting on Human Genetics

Mjesto i datum
Dubrovnik, Hrvatska; Cavtat, Hrvatska, 14.05.2009. - 17.05.2009

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Domaća recenzija

Ključne riječi
G6PD; Prevalence; Genetic analysis; Southern Croatia

Sažetak
AIM: To determine the prevalence and genetic analysis of the glucose-6-phosphate dehydrogenase (G6PD) deficiency in a Southern Croatia. MATERIALS AND METHODS: The fluorescent spot test was used to screen 2726 high school students and 302 males in the city of Komiža on the island of Vis. All positive samples were quantitatively measured using spectrophotometric method. Genetic analysis was performed on 24 unrelated G6PD-deficient male subjects. The entire coding region of the G6PD gene was amplified by PCR in nine fragments and analyzed by RFLP and SSCP as described previously. In order to determine change in samples that showed a shifted migration on SSCP, the relevant exon was sequenced. RESULTS: G6PD deficiency was found in 12 (0.44%) of the all school students samples. The incidence was 0.75% in males, and 0.14% in females. Of the all males tested in Komiža, 18 (5.96%) were G6PD deficient. Molecular testing revealed several different mutations: G6PD Cosenza 9(37.5%), G6PD Mediterranean 4(16.6%), G6PD Seattle 3(12.5%), G6PD Union 3(12.5%) and G6PD Cassano 1(4.2%) and novel variant G6PD Split 1(4.2%). Three samples remained uncharacterized. All G6PD Mediterranean mutations had concomitant silent C→ T transition at the position 1311. CONCLUSIONS: The prevalence of G6PD deficiency in the Dalmatian population is 0.44%. The prevalence rate of G6PD deficiency in the males of Komiža, town on an isolated island in the Adriatic Sea, is significantly higher. A novel G6PD mutation was identified. The results are unusual for Mediterranean basin in that G6PD Cosenza, rather than G6PD Mediterranean, is the predominant variant.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA