Thalassemia mutations in Gaziantep, Turkey

Ninety-eight postnatal and six prenatal cases of thalassemia were studied by the reverse dot-blot hybridization technique in the city of Gaziantep, Turkey. We found the following mutations: IVS 1.110 (G>A) in 29.1%, IVS 2.1 (G>A) in 12.3%, IVS 1.1 (G>A) in 7.7%, Codon 8 (-AA) in 5.6%, -30 (T>A) in 4.6%, IVS 1.6 (T>C) in 4.6%, Codon 39 (C>T) in 3.6%, Codon 44 (-C) in 3.1%, IVS 2.745 (C>G) in 1.5%, Codon 8/9 (+G) in 2.1%, Codon 36/37 (-T) in 2.1%, IVS 1.5 (G>C) in 2.1%, Codon 22 (7pb del) in 0.5%, Codon 5 (-CT) in 0.5% while 20.9% were undetermined. 54 of the thalassemia patients were homozygotes, 12 were compound heterozygous and 31 were heterozygotes. In one allele of 5 thalassemia patients, - thalassemia mutation (3.7 single gene deletions in 1 patient, anti-3.7 gene triplication in 4 patients) wasdetermined at the same time. Finally, this is the first comprehensive study in this region and percentage of and - globin genes mutation is 2.6 and 79.4%, respectively

Y chromosomal STR locus DYS385 in azoospermic and fertile men from the aegean region of Turkey: Is there any forensic relevance?

The DYS385 locus, consisting of two linked short tandem repeat (STR) subloci, is the polymorphic marker on the Y chromosome. The distribution of DYS385 genotypes was studied in 51 fertile and 49 azoospermic male individuals from the Aegean Region of Turkey. Genotype 14-17 was the most frequently observed genotype, and the gene diversity value of the Aegean population (n = 100) was 0.946 in this study. Results of the analyses show that there is a statistically significant difference between azoospermic and fertile males in terms of the DYS385 polymorphism. In addition, the results demonstrate that the DYS385 locus is very useful for human identification in forensic cases and paternity tests in the Aegean Region of Turkey

Y CHROMOSOMAL STR LOCUS DYS385 IN AZOOSPERMIC AND FERTILE MEN FROM THE AEGEAN REGION OF TURKEY: IS THERE ANY FORENSIC RELEVANCE?

The DYS385 locus, consisting of two linked short tandem repeat (STR) subloci, is the polymorphic marker on the Y chromosome. The distribution of DYS385 genotypes was studied in 51 fertile and 49 azoospermic male individuals from the Aegean Region of Turkey. Genotype 14-17 was the most frequently observed genotype, and the gene diversity value of the Aegean population (n = 100) was 0.946 in this study. Results of the analyses show that there is a statistically significant difference between azoospermic and fertile males in terms of the DYS385 polymorphism. In addition, the results demonstrate that the DYS385 locus is very useful for human identification in forensic cases and paternity tests in the Aegean Region of Turkey

Y CHROMOSOMAL STR LOCUS DYS385 IN AZOOSPERMIC AND FERTILE MEN FROM THE AEGEAN REGION OF TURKEY: IS THERE ANY FORENSIC RELEVANCE?

WOS: 000270731900006The DYS385 locus, consisting of two linked short tandem repeat (STR) subloci, is the polymorphic marker on the Y chromosome. The distribution of DYS385 genotypes was studied in 51 fertile and 49 azoospermic male individuals from the Aegean Region of Turkey. Genotype 14-17 was the most frequently observed genotype, and the gene diversity value of the Aegean population (n = 100) was 0.946 in this study. Results of the analyses show that there is a statistically significant difference between azoospermic and fertile males in terms of the DYS385 polymorphism. In addition, the results demonstrate that the DYS385 locus is very useful for human identification in forensic cases and paternity tests in the Aegean Region of Turkey