Detection of α-Thalassemia by Using Multiplex Ligation-Dependent Probe Amplification as an Additional Method for Rare Mutations in Southern Turkey

α-thalassemia is the most common single gene disorder in the Cukurova Region in Turkey. It is therefore routinely screened, including premaritally, in our region. The heterogeneous molecular basis of the disease makes α-thalassemia mutation detection difficult and complex. Besides well established methods, multiplex ligation dependent probe amplification (MLPA) is known as an effective, simple and specific method for the detection and characterization of deletions and duplications. We employed MLPA testing to 30 patients with hematological parameters suggestive of α-thalassemia carrier status but was negative for α-thalassemia with conventional reverse dot blot hybridization (RDB). We found α-globin gene deletions in 3 out of 30 (10 %) patients with MLPA. We propose that MLPA can be used as a second tier test in addition to other techniques such as RDB to identify α-thalassemia carriers in high prevalence regions such as ours, thereby allowing clinicians to provide accurate genetic counselling

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad of short stature, microtia, and a/hypoplastic patellae. Biallelic partial loss-of-function mutations in multiple components of the pre-replication complex (preRC; ORC1, ORC4, ORC6, CDT1, or CDC6) as well as de novo stabilizing mutations in the licensing inhibitor, GMNN, cause MGS. Here we report the identification of mutations in CDC45 in 15 affected individuals from 12 families with MGS and/or craniosynostosis. CDC45 encodes a component of both the pre-initiation (preIC) and CMG helicase complexes, required for initiation of DNA replication origin firing and ongoing DNA synthesis during S-phase itself, respectively, and hence is functionally distinct from previously identified MGS-associated genes. The phenotypes of affected individuals range from syndromic coronal craniosynostosis to severe growth restriction, fulfilling diagnostic criteria for Meier-Gorlin syndrome. All mutations identified were biallelic and included synonymous mutations altering splicing of physiological CDC45 transcripts, as well as amino acid substitutions expected to result in partial loss of function. Functionally, mutations reduce levels of full-length transcripts and protein in subject cells, consistent with partial loss of CDC45 function and a predicted limited rate of DNA replication and cell proliferation. Our findings therefore implicate the preIC as an additional protein complex involved in the etiology of MGS and connect the core cellular machinery of genome replication with growth, chondrogenesis, and cranial suture homeostasis

Assessment of problem solving proficiencies with self-efficacy perceptions of students in faculty of health sciences of cyprus international university

The aim of this study is to evaluate the self-efficacy perceptions and problem solving competencies of students of Health Sciences Faculty. The study included 150 students studying in 4th grade who completed the questionnaire completely. Self-efficacy-competence scale was used to evaluate students’ self-efficacy perceptions, and Problem Solving Inventory was used to evaluate problem solving proficiencies. The mean age of the students included in the study was 22.26 ± 1.27 years and 59.3% [n = 89] were female students. It was determined that the self-efficacy perception scores of the students were 82.30 ± 14.37 and the problem solving ability scores were 103.65 ± 19.31. There was a significant relationship between self-efficacy perception and problem solving ability [r = -0,328, p: 0.01]. According to the results, it was determined that the students had a low level of self-efficacy perception and problem solving competencies

Assessment of problem solving proficiencies with self-efficacy perceptions of students in faculty of health sciences of cyprus international university

The aim of this study is to evaluate the self-efficacy perceptions and problem solving competencies of students of Health Sciences Faculty. The study included 150 students studying in 4th grade who completed the questionnaire completely. Self-efficacy-competence scale was used to evaluate students’ self-efficacy perceptions, and Problem Solving Inventory was used to evaluate problem solving proficiencies. The mean age of the students included in the study was 22.26 ± 1.27 years and 59.3% [n = 89] were female students. It was determined that the self-efficacy perception scores of the students were 82.30 ± 14.37 and the problem solving ability scores were 103.65 ± 19.31. There was a significant relationship between self-efficacy perception and problem solving ability [r = -0,328, p: 0.01]. According to the results, it was determined that the students had a low level of self-efficacy perception and problem solving competencies

Single nucleotide variations of the canine RAD51 domains, which directly binds PALB2 and BRCA2

Tumors of the mammary glands are the most common tumors to affect entire female dogs representing between 50-70% of all tumors types, which is three times higher rate of incidence than humans. No other animal species has such high probability of onset of mammary tumors. Homologous recombination (HR) is the most important double-strand breaks (DSBs) repair mechanisms of DNA and RAD51 plays an important role in this repair mechanism. The tumor suppressors RAD51, BRCA2 and PALB2 act together to initiate the chromosomal lesions repair. BRCA2 and PALB2 mutations lead to destabilization of the genome and engender cancer risk. PALB2 binds to DNA and associates with the RAD51 recombinase. In this study we investigate the genetic variations in RAD51 gene, which directly interactions with PALB2 and BRCA2 domains. From a total of 64 canine patients with mammary tumors, 31 mammary tumors with benign and malign carcinomas and the 3 normal mammary glands were used for the study. We have identified 2 SNPs (Single Nucleotide Polymorphisms) and 7 SNVs (Single Nucleotide Variants) in canine RAD51 exon 7- intron 9 regions, among them 7 SNVs and 1 SNPs were detected for the first time in this study

Prenatal Diagnosis

Prenatal diagnosis is the process of determining the health or disease status of the fetus or embryo before birth. The purpose is early detection of diseases and early intervention when required. Prenatal genetic tests comprise of cytogenetic (chromosome assessment) and molecular (DNA mutation analysis) tests. Prenatal testing enables the early diagnosis of many diseases in risky pregnancies. Furthermore, in the event of a disease, diagnosing prenatally will facilitate the planning of necessary precautions and treatments, both before and after birth. Upon prenatal diagnosis of some diseases, termination of the pregnancy could be possible according to the family's wishes and within the legal frameworks. [Archives Medical Review Journal 2012; 21(1.000): 80-94

A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

The 17 years old boy was diagnosed as Borjeson Forsmann Lehmann Syndrome who was referred to our Genetic Diagnosis Center for his dysmorphic features, obesity, gynecomasty and mental retardation . There are so many diseases in differantial diagnosis of obesity and mental retardation that BFLS is a rare one of them. We aimed to discuss the findings of the patient clinically diagnosed as BFLS within the scope of literature. [Cukurova Med J 2012; 37(1.000): 60-63

ON SINGULAR INTEGRAL OPERATORS INVOLVING POWER NONLINEARITY

Uysal, Gumrah/0000-0001-7747-1706WOS: 000419023400002In the current manuscript, we investigate the pointwise convergence of the singular integral operators involving power non linearity given in the following form: T-lambda(f;x) = integral(b)(a) Sigma(n)(m=1) f(m)(t)K-lambda,K-m(x,t)dt, lambda epsilon Lambda, x epsilon (a, b), where A is an index set consisting of the non-negative real numbers, and n >= 1 is a finite natural number, at mu-generalized Lebesgue points of integrable function f epsilon L-1 (a, b). Here, f(m) denotes m - th power of the function f and (a, b) stands for arbitrary bounded interval in or I itself. We also handled the indicated problem under the assumption f epsilon L-1 (N

Alpha-Thalassemia Mutations in Adana Province, Southern Turkey: Genotype-Phenotype Correlation

To look over the distribution of the mutations in a large series from Adana province, Southern Turkey, and determine the genotype-phenotype correlation of the frequent mutations. Among the 2500 individuals with mild or moderate anemia, microcytosis, and normal iron levels that were referred to our Genetic Diagnosis Center, a population consisting of 539 individuals were included in the study and tested for alpha-thalassemia mutations by using reverse dot blot hybridization technique. Twelve different mutations were detected in 539 patients. Among the 12 different mutations found, the most frequent mutations were the -alpha(3.7) (63.3 %), --(MED) (11.7 %), --(20.5) (10.7 %), alpha 2(IVS1(-5nt)) (3.9 %), and alpha 2(polyA-2) (3.5 %). The most frequent genotypes were -alpha(3.7)/alpha alpha (35.8 %), -alpha(3.7)/-alpha(3.7)(18.9 %), -(20.5)/alpha alpha (11.5 %), and --(MED)/alpha alpha (10.4 %), respectively. There were statistically significant differences in hematological findings between -alpha(3.7)/-alpha(3.7) and --(MED)/alpha alpha, even though both have two mutated genes in the genotype. Our results show that alpha-thalassemia mutations are highly heterogeneous as well as deletional and -alpha(3.7) single gene deletion is particularly prevalent at Adana province in agreement to other studies from Turkey