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

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

Hemoglobinlerin hplc yöntemi kullanılarak incelenmesi

TEZ609Tez (Uzmanlık) -- Çukurova Üniversitesi, Adana, 1988.Kaynakça (s. 71-78) var.78 s. ; 30 cm.

Differential molecular diagnostic of the hemoglobin D- Los Angeles [ 121(GH4) GluGln] mutation with surface plasmon resonance (SPR) spectroscopy

Amaç: Bu çalışmada, Hb D-Los Angeles anormal hemoglobin (Hb) türünün laboratuar tanısında kullanılan molekülsel yaklaşımlar irdelenerek, bu hemoglobin türünün gen düzeyinde hızlı ve güvenilir tanısında, biyosensör tabanlı yüzey plazmon rezonans (SPR: Surface Plasmon Resonance) spektroskopisi kullanılabilirliğinin gösterilmesi amaçlanmıştır. Gereç ve Yöntem: Bu çalışmada, aralarında akrabalık ilişkisi olmayan, sağlıklı (Hb AA, n:5) ve heterozigot Hb D- Los Angeles [ 121(GH4) GluGln] (n:5)'lı bireyler incelenmiştir. Hb D- Los Angeles mutasyonunun protein düzeyinde tanımlanmasında, alkali/asit hemoglobin elektroforezleri, DE-52 mikrokolon kromatografisi yöntemleri kullanılmıştır. Mutasyonun gen düzeyinde saptanmasında ise, polimeraz zincir reaksiyonu (PCR: Polymerase Chain Reaction) tabanına dayalı Eco RI restriksiyon enzimi/ tek nükleotit polimorfizmi (SNP: Single Nucleotide Polymorphism) ve flüoresan işaretli DNA dizi analiz yöntemleri kullanılmıştır. SPR spektroskopisi kullanılarak, Hb AA ve Hb AD- Los Angeles olgulara ait biyotinli primerler ile işaretlenmiş PCR ürünleri ile mutasyon odağına özgü Eco RI restriksiyon enzim etkileşimi gerçek zamanlı olarak incelenmiştir. Bulgular: SPR spektroskopisi ile Hb AD-Los Angeles ve Hb AA olguları arasındaki farklılıklar gerçek zamanlı olarak belirlenmiştir. Elde edilen verilere göre, SPR spektroskopisi yöntemi, HbAA ve Hb ADLos Angeles mutasyonu arasındaki değişiklikleri algılayabilmektedir. Bağlanma eğrilerinden, Hb AA PCR ürünü ile Eco RI restriksiyon enzimi etkileşimi sonucu 400 arc saniyelik, heterozigot Hb AD -Los Angeles olgusunda ise, EcoRI enzimi ve hedef PCR ürünleri arasında 300 arc saniyelik rezonans kayıtları alınmıştır. Aradaki 100 arc saniyelik rezonans fark, Hb D- Los Angeles mutasyonundan kaynaklanmaktadır. Sonuç: Molekülsel tanı yöntemlerinde anormal hemoglobin bozukluklarının doğru biçimde tanımlanması önemlidir. Molekülsel tanı yöntemlerinde anormal hemoglobin bozukluklarının doğru biçimde tanımlanması önemlidir. Bu yöntemlerden protein ve gen düzeyindeki tanı yöntemlerinde, birçok hemoglobin türü benzer davranış sergilediklerinden kesin tanı yöntemi DNA dizi analizidir. DNA dizi analizi ise pahalı bir yöntem olması, analizin uzun zaman alması ve deneyimli kullanıcı gereksinimi nedeni ile her laboratuarda rutin biçimde kullanılamamaktadır.Bu doğrultuda, SPR spektroskopisi yönteminin geliştirilerek, Hb D- Los Angeles ya da benzeri anormal hemoglobin bozukluklarının kısa sürede ve gerçek zamanlı tanısında, rutin uygulamalarda kullanılabileceği sonucuna varılmıştır.Objective: In this study, we aimed to determine the molecular approaches used in the laboratory diagnosis of Hb D- Los Angeles and to show rapid and reliable diagnosis of the mutation by SPR (Surface Plasmon Resonance) spectroscopy based biosensor. Materials and Methods: In this study, we were investigated with heterozygote Hb D- Los Angeles [ 121(GH4) Glu>Gln] (n:5) and healthy (Hb AA, n:5) individuals. These individuals were unrelated with each other. For the determination of the Hb D- Los Angeles mutation alkaline/acid electrophoresis DE-52 microcolumn chromatography procedures were applied at the protein level. This mutation were determinated by Eco RI restriction enzyme/SNP (Single Nucleotide Polymorphism) and labelled fluorescence automated DNA sequencing methods based on PCR (Polymerase Chain Reaction) at the gene level. We were examined by using SPR spectroscopy as real-time interactions in between biotinylated PCR products and the restriction enzyme Eco RI. Results: Differences between Hb AD-Los Angeles and Hb AA samples were determined with SPR spectroscopy as the real-time. According to our results, SPR spectroscopy method can detect the changes in between Hb AA and Hb AD Los Angeles mutation. The resonance recordings have been given 400 arc second as a result of interaction HbAA PCR products with Eco RI restriction endonuclease, whereas between Eco RI enzyme and target PCR products have been given 300 arc second in the case of heterozygous Hb D Los Angeles from the binding curves. In between them, 100 arc second of the resonance difference were caused by Hb D- Los Angeles mutation. Conclusion: Molecular diagnostic methods are important tools for the identification of the abnormal hemoglobins. Since abnormal hemoglobins present some similar results with electrophoretic and chromatographic methods, precise identification method is DNA sequencing analysis. DNA sequence analysis is not used to every laboratory routinely, because of the need for an experienced user, to give long term results and to be expensive. In this regard, we have been concluded that SPR spectroscopy can be used as routine applications in short period of time and real-time detection in the model of Hb D Los Angeles. Similar approaches based on SPR can be also developed for the abnormal hemoglobins

Differential molecular diagnostic of the hemoglobin D-los angeles [β121(GH4) Glu>Gln] mutation with surface plasmon resonance (SPR) spectroscopy

Objective: In this study, we aimed to determine the molecular approaches used in the laboratory diagnosis of Hb D-Los Angeles and to show rapid and reliable diagnosis of the mutation by SPR (Surface Plasmon Resonance) spectroscopy based biosensor. Materials and Methods: In this study, we were investigated with heterozygote Hb D-Los Angeles [ 1(GH4) Glu>Gln] (n:5) and healthy (Hb AA, n:5) individuals. These individuals were unrelated with each other. For the determination of the Hb D-Los Angeles mutation alkaline/acid electrophoresis DE-52 microcolumn chromatography procedures were applied at the protein level. This mutation were determinated by Eco RI restriction enzyme/SNP (Single Nucleotide Polymorphism) and labelled fluorescence automated DNA sequencing methods based on PCR (Polymerase Chain Reaction) at the gene level. We were examined by using SPR spectroscopy as real-time interactions in between biotinylated PCR products and the restriction enzyme Eco RI. Results: Differences between Hb AD-Los Angeles and Hb AA samples were determined with SPR spectroscopy as the real-time. According to our results, SPR spectroscopy method can detect the changes in between Hb AA and Hb AD Los Angeles mutation. The resonance recordings have been given 400 arc second as a result of interaction HbAA PCR products with Eco RI restriction endonuclease, whereas between Eco RI enzyme and target PCR products have been given 300 arc second in the case of heterozygous Hb D Los Angeles from the binding curves. In between them, 100 arc second of the resonance difference were caused by Hb D-Los Angeles mutation. Conclusion: Molecular diagnostic methods are important tools for the identification of the abnormal hemoglobins. Since abnormal hemoglobins present some similar results with electrophoretic and chromatographic methods, precise identification method is DNA sequencing analysis. DNA sequence analysis is not used to every laboratory routinely, because of the need for an experienced user, to give long term results and to be expensive. In this regard, we have been concluded that SPR spectroscopy can be used as routine applications in short period of time and real-time detection in the model of Hb D Los Angeles. Similar approaches based on SPR can be also developed for the abnormal hemoglobins. © 2012 Düzce Medical Journal

A causal relationship between UDP-glucuronosyltransferase 1A1 promoter polymorphism and idiopathic hyperbilirubinemia in Turkish newborns

The etiology of pathological jaundice can not be identified in almost half of the cases. The effect of promoter polymorphism in the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene was investigated in healthy breast-fed Turkish neonates with unexplained and direct Coombs'-negative ABO incompatible hyperbilirubinemia. Newborns whose peak serum bilirubin levels were ≥17 mg/dl and ≤12.9 mg/dl within the first week of life formed the idiopathic hyperbilirubinemia (n: 50) and control (n: 54) groups, respectively. Thymineadenine (TA) repeats in the promoter region of the UGT1A1 gene were investigated by polymerase chain reaction (PCR)-based non-radioactive DNA sequencing. In the idiopathic hyperbilirubinemia group, higher peak bilirubin levels, higher heterozygous and variant homozygous genotypes, higher TA7 allele frequencies, and shorter peak time were observed (p<0.001, p<0.001, p<0.001, p<0.05, respectively). In conclusion, healthy breast-fed Turkish neonates who carry heterozygous and variant homozygous genotypes in the UGT1A1 gene are at high risk of developing significant hyperbilirubinemia without additional icterogenic factors

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

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