Angiotensin-converting enzyme I/D polymorphism in Behçet's disease

Objective: To investigate a potential relationship between I/D polymorphism within intron 16 of the angiotensin-converting enzyme (ACE) gene located on human chromosome 17 and Behçet's disease. Materials and Methods: Genomic DNA was obtained from 35 Turkish patients diagnosed with Behçet's disease according to the International Study Group criteria and 150 healthy individuals. Polymerase chain reaction was used to detect the presence of I and D (insertion and deletion) alleles in intron 16 of the ACE gene in these DNA samples. Results: We found differences in ACE I/D polymorphism between Behçet's disease and healthy controls (χ2 = 4.61, d.f. = 1, p = 0.044). In Behçet's disease patients, the D allele frequency was 84.3% and I allele frequency 15.7%. Conclusion: An association between Behçet's disease and ACE polymorphism may provide a useful basis for future molecular studies and therapeutic approaches in this complex disease. Copyright © 2005 S. Karger AG

Rare hemoglobin variant Hb Yaizu observed in Turkey

Objective: To determine the characteristic features of the rare hemoglobin (Hb) variant Hb Yaizu to enable laboratory diagnosis of the hemoglobin variants during screening programs. Materials and Methods: Genomic DNA was obtained from the 4 members of a family living in Denizli province, an Aegean region of Turkey. Blood cell counts, hemoglobin composition, hemoglobin electrophoresis (both alkaline and acid), HPLC analysis, DNA sequencing and beta globin gene cluster haplotypes were done. Results: Hb Yaizu carriers were apparently healthy individuals. Hb Yaizu was slightly faster than Hb S at alkaline pH, but slower than Hb S at acidic pH in hemoglobin electrophoresis. An abnormal hemoglobin peak was observed with a retention time of 4.77 min in HPLC analysis attributed to Hb Yaizu. Two members of the family were heterozygous Hb Yaizu [beta 79(EF3) Asp>Asn] confirmed by DNA sequencing. The mutation was found to be linked with the Mediterranean haplotype I [+ - - ++]. Conclusion: We have presented the details of Hb Yaizu, a rare hemoglobin variant that may be important to hemoglobinopathy screening programs, although its clinical significance is unclear. Copyright © 2008 S. Karger AG

Hb D-Los Angeles [beta121(GH4)Glu>Gln] and Hb Beograd [beta121(GH4)Glu>Val]: Implications for their laboratory diagnosis and genetic origins

Objective: The aim of this study was to determine the laboratory diagnosis and genetic origins of the hemoglobin (Hb) variants, Hb D-Los Angeles and Hb Beograd observed frequently in our region. Material and Methods: Hb variants were investigated in one Hb D-Los Angeles and two Hb Beograd families. These families were unrelated with each other. For the determination of Hb variants, alkaline/acid electrophoresis, HPLC, DE-52 micro-column chromatography procedures were applied. Mutations were determined by non-radioactive fluorescence automated DNA sequencing. Beta globin gene cluster haplotypes were identified by RFLP analysis at seven loci known as ε-Hinc II, Gγ-Hind III, Aγ-Hind III, 5′ψβ-Hinc II, 3′ψβ-Hinc II, β-Ava II ve 3′β-Hinf I. Results: Three novel beta globin gene cluster haplotypes were identified as in relation with Hb D-Los Angeles [--+-+++], Hb Beograd [+----++ and -+-(+/-)(+/-)+(+/-)]. These haplotypes were reported for the first time in the world population Conclusion: In this study we emphasize the importance of DNA seqeuncing and other laboratory procedures for the identification of Hb variants in premarital diagnosis. On the other hand we discuss also the genetic origins of these Hb variants

Türkiye’de gözlenen ilk Hb Tunis [beta124(H2)Pro>Ser] olgusu

Hb Tunis [beta124(H2)Pro>Ser] was reported from Tunisia in 1988. This hemoglobin variant was detected by isoelectric focusing moving just ahead of Hb A. It cannot be identified by standard hemoglobin electrophoresis due to its similar mobility to Hb A. It has normal stability and oxygen affinity and does not produce any clinical symptoms. Here, we report a heterozygous Hb Tunis [beta124(H2)Pro>Ser] case discovered for the first time in Turkey in a premarital screening program. This hemoglobin variant can be identified with high performance liquid chromatography analysis confirmed with DNA sequencing. We emphasize in our study the importance of an interdisciplinary collaborative study at the provincial basis for the success of the hemoglobinopathy control program

The angiotensin converting enzyme I/D polymorphism in Turkish athletes and sedentary controls.

The angiotensin converting enzyme (ACE) gene is located on human chromosome 17 expressing three genotypes within the intron 16 of the related gene structure. These genotypes are classified as I and D alleles which are termed as insertion and deletion, respectively. This study was carried out to identify possible relationships between the insertion/deletion (I/D) polymorphisms and athletic performance in Turkish athletes. To be able to determine these relationships, eighty healthy athletes and eighty healthy sedentary controls were genotyped for the ACE I/D polymorphism at gene level. According to the results obtained, we found significant difference on ACE I/D polymorphism in between athletes and healthy controls (x2 = 7.32, df = 2, P = 0.026). This result supports the association in ACE genotype in Turkish athletes, suggesting that this might be a genetic factor influencing the physical performance

The Angiotensin Converting Enzyme I/D Polymorphism in Turkish Athletes and Sedentary Controls

Summary: The angiotensin converting enzyme (ACE) gene is located on human chromosome 17 expressing three genotypes within the intron 16 of the related gene structure. These genotypes are classified as I and D alleles which are termed as insertion and deletion, respectively. This study was carried out to identify possible relationships between the insertion/ deletion (I/D) polymorphisms and athletic performance in Turkish athletes. To be able to determine these relationships, eighty healthy athletes and eighty healthy sedentary controls were genotyped for the ACE I/D polymorphism at gene level. According to the results obtained, we found significant difference on ACE I/D polymorphism in between athletes and healthy controls (x2 = 7.32, df = 2, P = 0.026). This result supports the association in ACE genotype in Turkish athletes, suggesting that this might be a genetic factor influencing the physical performance

Genetic origin of Behcet's disease population in Denizli, Turkey; population genetics data analysis; historical demography and geographical perspectives based on beta-globin gene cluster haplotype variation

Ozturk, Onur/0000-0003-3404-4135WOS: 000393734600005PubMed: 28031553In our study, we aimed to investigate the possible genetic drift, relationships, expansion and historical origin based on haplotype frequencies of the beta-globin gene cluster of normal and Behcet's disease (BD) population in Denizli, Turkey. We examined blood DNA samples obtained from our DNA bank. The association of population genetic parameters such as haplotypes, diversity, differentiation, Hardy Weinberg equilibrium and demographic analysis for two populations was performed by Arlequin ver. 3.5. Our results show that both populations have high similarity in genetic parameters in terms of development and expansion based on haplotype diversity through the history. We found that historical levels of gene flow were significantly higher between the two populations. According to historical population, growth parameter of tau values for normal and BD populations dated approximately 42 000 to 38 000 ybp, respectively. In conclusion, historically, two populations show similar genetic parameters and unimodal growth distribution. Our results are consistent with the view that the BD may have occurred in area, independent from Silk Road.Pamukkale UniversityPamukkale University [2005SBE001, 2005SBE002, 2006SBE004]This work was partially supported by Pamukkale University Research Fund Projects Nos 2005SBE001,2005SBE002 and 2006SBE004 regarding to consumables used