Naslov
Sequencing analysis of CFTR gene in Croatian patients with cystic fibrosis

Autori
Zekušić, Marija ; Ljubić, Hana ; Juričić, Ljiljana ; Tješić-Drinković, Dorian ; Rako, Ivana ; Serić, Jadranka

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

Skup
2nd EFLM-UEMS European Joint Congress-Laboratory medicine at the clinical Interface,

Mjesto i datum
Dubrovnik, Hrvatska, 10.10.2012. - 13.10.2012

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Sekvenciranje; CFTR gen; Cistična fibroza;
(Sequencing; CFTR gene; Cystic fibrosis)

Sažetak
Background: Cystic fibrosis (CF) is the most common autosomal recessive hereditary disease in Caucasians with an average incidence of 1:2500 newborns. CFTR gene codes for CFTR protein (cystic fibrosis transmembrane conductance regulator) which regulates the transport of chloride ions through cell membranes. Materials and methods: Genomic DNA of 65 CF patients was screened for 32 mutations by Cystic Fibrosis Genotyping Assay CFv3 (Abbott). Twelve patients who were found to be heterozygous for one CF mutation were further analysed by sequencing method for specific exons (7, 10, 11, 12 and 19) on AB Genetic Analyzer 3130XL, using BigDye Terminator Cycle Sequencing Kit v3.1 (Applied Biosystems). Results: Since year 2001, out of 65 patients detected to have CF, 42 were homozygous with the deltaF508 mutation and 11 were compound heterozygous. By using commercial kit we revealed 14 different mutations in patients with CF. Through sequencing exons 7, 10, 11, 12 and 19 in 12 heterozygous patients so far we have found five polymorphisms: M470V (c.1408A>G), 1898+152T/A (c.1766+152T>A), 3601-65C/A (c.3469- 65C>A), 1525- 61A/G (c.1393-61A>G) and R75Q (c.224G>A). These DNA polymorphisms will certainly contribute to understanding the sequential variants and clinical correlation. Other CFTR exons still remain to be analyzed. Conclusions: This paper investigates variants in CFTR gene other than the panel covered by commercial kit. By collecting information about similar cases and studying them, we are likely to notice a link between new mutations, polymorphisms and clinical features.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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