This study was aimed to detect and identify genetic mutations in γ-aminobutyric acid receptor β3 subunit encoding gene (GABRB3) and its association with autism spectrum disorders. Forty autistic patients and 25 non-autistic as control group (5 unaffected sibling and 20 unrelated) with age range from 3 – 10 years were included in this study. Chromosomal DNA was extracted from blood samples followed by polymerase chain reaction (PCR) amplification of two targeted regions which include: (exon2-intron2-exon3) region and (exon 6) region of GABRB3 for subsequent DNA sequencing. Identical bands related to the targeted regions were present in all samples. A sample of PCR products of patients and controls were sequenced. Sequencing results revealed the presence of four different single nucleotide polymorphism (SNPs) in four autistic patients (one SNP in exon2, two SNPs in intron 1 and one SNP in the beginning of intron 3) while four different autistic samples and three from control group had no mutations along this region. Exon 6 showed 100 % sequence identity in all samples (seven autistic and three from control group). The translation of nucleotides sequences into amino acid sequence revealed that the SNP in exon 2 caused a change of amino acid in the polypeptide sequence by changing the codon (AGA) which codes for arginine to (AAA) which codes for lysine. The online software tool, RaptorX was used for the prediction of the three dimensional structure of the polypeptides in which exon 2 carrying one SNP (30 a.a.) showed that 5 (16%) positions predicted as disordered, while the structure prediction of polypeptide translated from exon 3 was not obtained due to its small length (22 a.a.). Structure prediction of polypeptide of exon 6 (46 a.a.) showed that (0%) positions predicted as disordered, considering its lack of mutations. These results suggest the association of the detected SNPs with autism, especially the SNP located in exon 2 considering that it changed the polypeptide three dimensional structure, thus it could possibly alter its function. All SNPs are reported for the first time in this study except the one in intron 3 (rs755863611) which was previously reported.
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Phraseological or phraseological turn - unchanged in structure and composition, integral in meaning and lexically indivisible phrase or sentence, performing the function of a separate dictionary unit - lexemes. Idioms are found in any language of the world. But such a number of winged phrases, as in Russian, is nowhere else. Idioms play a role in displaying the national-cultural characteristics of any language. They very clearly and accurately reflect the characteristics of the perception of the world, the characteristic features of the material and spiritual life of native speakers, his mentality.
The notion of presupposition has been tackled by many linguists. They have found that the term ―presupposition” is being used in two different senses in the literature: semantic and pragmatic. As for semantic sense, Geurts (1999) has isolated some constrictions as sources of presupposition by making lists of presupposition triggers. Concerning the pragmatic sense Kennan (1971:89) uses the term pragmatic presupposition to refer to a class of pragmatic inferences which are, in fact, the relation between a speaker and the appropriateness of a sentence in the context. In spite of the fact that there are many researches that have been done in the field of presupposition but few of them in the field of short stories up to the researcher's kno
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In this paper we introduce a new type of functions called the generalized regular
continuous functions .These functions are weaker than regular continuous functions and
stronger than regular generalized continuous functions. Also, we study some
characterizations and basic properties of generalized regular continuous functions .Moreover
we study another types of generalized regular continuous functions and study the relation
among them
Objectives: This study aimed to findout approaches which used by midwives for avoiding episiotomy and assess their knowledge regarding complications of episiotomy in three main cities of Kurdistan region. Methodology: A cross-sectional study was conducted between 1st January and 15th April 2014 in the three biggest maternity teaching hospitals. The study population included all the midwives (n=53) working in delivery rooms. Data were collected through interview with midwives. Results: The Midwives stated the followings as complications of episiotomy: tear into the rectum muscle or rectum itself (52.8%), bleedi