Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients

Kilinc, Mehmet O.; Ninis, Vasiliki; Dağlı, Elif; Demirkol, Mübeccel; Özkınay, Ferda; Arıkan, Zeliha; Çoğulu, Özgür; Hüner, G.; Karakoç, Fazilet; Tolun, Aslıhan

doi:10.1002/ajmg.10721

Cited by 46 publications

(16 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…No p.F508del mutations were detected in the Korean patients of this study. CF mutation frequencies vary widely among different populations, and haplotype heterogeneity has been found to be greater in populations with lower p.F508del frequencies [33]. The heterogeneous mutational spectrum observed in this study also confirms these previous findings of high haplotype heterogeneity with lower p.F508del frequencies.…”

Section: Discussionsupporting

confidence: 89%

Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis

et al. 2011

View full text Add to dashboard Cite

BackgroundCystic fibrosis (CF) is one of the most common hereditary disorders among Caucasians. The most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been well established among Caucasian populations. In Koreans, however, there are very few cases of genetically confirmed CF thus far, and the spectrum of mutations seems quite different from that observed in Caucasians.MethodsIn the present study, we describe the cases of 2 Korean CF patients, present sequencing results identifying mutations in their CFTR gene, and summarize the results of CFTR mutational spectrum from previously reported Korean CF patients. The mutations described were identified by performing direct sequencing analysis of the complete coding regions and flanking intronic sequences of the CFTR gene, followed by multiplex ligation-dependent probe amplification (MLPA) analysis in order to detect gene deletions or duplications that could not be identified by a direct sequencing method.ResultsThree CFTR mutations were identified in the 2 patients, including p.Q98R, c.2052delA, and c.579+5G>A. In an analysis of 9 Korean CF patients that included the 2 patients presented in this study, p.Q98R mutation was the only recurrently observed mutation with a frequency of 18.8% (3/16 alleles). Furthermore, only one of the mutations (c.3272-26A>G) was found among the 32 common mutations in the screening panel for Caucasians from the Cystic Fibrosis Mutation Database.ConclusionsSequencing of the entire CFTR gene followed by MLPA analysis, rather than using the targeted sequencing-based screening panel for mutations commonly found in Caucasian populations, is recommended for genetic analysis of Korean CF patients.

show abstract

Section: Discussionsupporting

confidence: 89%

Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis

et al. 2011

View full text Add to dashboard Cite

show abstract

“…The highest genetic heterogeneity in a population with respect to CF was found, and a minimum carrier frequency of 1 in 50 was assessed in the Turkish population with under-diagnosed CF [10]. In our study, there were 45 consanguineous marriages, but we did not find any significant relationship between consanguinity and the diagnosis of CF in our patients.…”

Section: Discussioncontrasting

confidence: 52%

“…Consanguinity was not found to be major factor contributing to the incidence of CF in Turkey [10]. The highest genetic heterogeneity in a population with respect to CF was found, and a minimum carrier frequency of 1 in 50 was assessed in the Turkish population with under-diagnosed CF [10].…”

Section: Discussionmentioning

confidence: 99%

“…Twenty patients with high conductivity values (> 60 mmol/L) in the second test and clinical manifestations of CF were referred to the pediatric chest clinic for follow-up. The diagnosis was confirmed in 17 patients with sweat tests, and mutations of the CF transmembrane conductance regulator gene were found in all of them [10]. Three patients did not have CF.…”

Section: Methodsmentioning

confidence: 99%

“…The precise prevalence of CF in Turkey is unknown. However, in CF, the high heterogeneity and significantly higher number of mutations compared to other European countries has been demonstrated in several studies [10, 11]. There is no newborn screening program for CF in Turkey at the present time; thus, the diagnosis is made when clinical symptoms exist and the patients’ history is suspicious.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Nanoduct Sweat Conductivity Measurements in 2664 Patients: Relationship to Age, Arterial Blood Gas, Serum Electrolyte Profiles and Clinical Diagnosis

et al. 2013

View full text Add to dashboard Cite

BackgroundThe Nanoduct® device has acceptable diagnostic accuracy, but there is not enough systematic data supporting its usage in the diagnosis of cystic fibrosis (CF).MethodsA retrospective review of patients with an indication for the sweat test was conducted. The conductivity test was repeated in patients who had values higher than 60 mmol/L, and they were referred for sweat chloride measurements. Associations between sweat conductivity measurements and age, gender, (pH, HCO3, pCO2, Na, K, Cl), family history, consanguinity, indications for the test and number of hospitalization were studied.ResultsAmong 2,664 patients, 16 children had sweat conductivity values higher than 80. The median age of patients diagnosed with CF was 4 months old. Age, pH, HCO3, Na, Cl, K and the sweat conductivity test were statistically related (P < 0.001). The ROC curve showed very high agreement between the 2nd conductivity test and the sweat test.ConclusionsPatients suspected to have CF can be screened using the Nanoduct® conductivity device in non-qualified centers.

show abstract

Biotechnology in Turkey: An overview

Özdamar

2009

Biotechnology Journal

View full text Add to dashboard Cite

The term biotechnology first appeared in the programs of the Scientific and Technological Research Council of Turkey (TUBITAK) in 1982. The State Planning Organization (SPO) in 1988 defined biotechnology and the scientific fields. Moreover, it put forward an institutional framework and suggested priority areas for research and development. Turkey has been researching and investing in biotechnology for almost four decades. This review covers the development of science and technology policy with its history, consensus and consequences, bio-industries in Turkey, and research activities in biotechnology at Turkish Universities. Details are provided by the research groups in response to a common request for information on their activities and major publications in the field. The information provided has been grouped under thematic topics within the broad theme of biotechnology, and summarized within these topics. Although many aspects of biotechnological research are being pursued in Turkey, it appears that the most common research activities of the field are in fermentation processes, environmental biotechnology, and biomedical engineering.

show abstract

Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients

Cited by 46 publications

References 30 publications

Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis

Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis

Nanoduct Sweat Conductivity Measurements in 2664 Patients: Relationship to Age, Arterial Blood Gas, Serum Electrolyte Profiles and Clinical Diagnosis

Biotechnology in Turkey: An overview

Contact Info

Product

Resources

About