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Báo cáo y học: " Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học 'Respiratory Research cung cấp cho các bạn kiến thức về ngành y đề tài:" Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). | Ziẹtkiewicz et al. Respiratory Research 2010 11 174 http respiratory-research.eom content 11 1 174 RESPIRATORY RESEARCH RESEARCH Open Access Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia PCD 1 1 f 1 f 1 13 1 Ewa Ziẹtkiewicz Barbara Nitka Katarzyna Voelkel Urszula Skrzypczak Zuzanna Bukowy Ewa Rutkiewicz Kinga Huminska1 Hanna Przystalowska1 Andrzej Pogorzelski2 Michal Witt1 3 Abstract Background Mutations in the DNAI1 gene encoding a component of outer dynein arms of the ciliary apparatus are the second most important genetic cause of primary ciliary dyskinesia PCD the genetically heterogeneous recessive disorder with the prevalence of 1 20 000. The estimates of the DNAI1 involvement in PCD pathogenesis differ among the reported studies ranging from 4 to 10 . Methods The coding sequence of DNAI1 was screened SSCP analysis and direct sequencing in a group of PCD patients 157 families 185 affected individuals the first ever studied large cohort of PCD patients of Slavic origin mostly Polish multiplex ligation-dependent probe amplification MLPA analysis was performed in a subset of 80 families. Results Three previously reported mutations IVS1 2-3insT L513P and A538T and two novel missense substitutions C388Y and G515S were identified in 12 families i.e. 8 of non-related Polish PCD patients . The structure of background SNP haplotypes indicated common origin of each of the two most frequent mutations IVS1 2-3insT and A538T. MLPA analysis did not reveal any significant differences between patients and control samples. The Polish cohort was compared with all the previously studied PCD groups a total of 487 families IVS1 2-3insT remained the most prevalent pathogenetic change in DNAI1 54 of the mutations identified worldwide and the increased global prevalence of A538T 14 was due to the contribution of the Polish cohort. Conclusions The worldwide involvement of DNAI1 mutations in PCD pathogenesis in families not preselected for .