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.
Reduction represents a form of artistic abstraction to express things with formal symbols that suggest the content of the idea, as the beauty of the design artwork cannot be unique in the form only, but in revealing its meaning as well. He resorts to shorthand to express the content of his idea related to design necessities and needs to achieve a specific function whose role is crystallized through the form that follows the function. The importance of the research was also represented in: Benefiting workers and scholars in the field of design with regard to shorthand and implicit in graphic design. The aim of the research: to identify the relationship between implicit meaning and reduced forms in graphic design. And the aesthetic of fo
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Background: Respiratory distress is one of the
commonest disorders within the firs 48 - 72 hours of live
and any sign of postnatal respiratory distress is an
indication for roentgenogram of the chest.
Objectives: Is to show the range of chest radiographic
findings in full term newborn babies suffering from
respiratory distress, at or soon after birth.
Method: This is a prospective study that was conducted
in the special care baby units in Baghdad teaching
hospital and Children welfare teaching hospital during
2002. Anteroposterior chest radiograph in supine
position of (129) full term newborn babies, presented
with a chief complaint of respiratory distress were
examined.
Results: The commonest ca
There is an association between the signifier and the signifier. This association shows the eyeball, which acquires a direct presence and whose presence influences the level of production of the hidden connotation. Because the theatrical presentation is a series of auditory-visual functions, these signs are looking for the exploration of their meanings and their evocation to form a complete loop to achieve the association of the above. This is what made the researcher to monitor the abundance of semantic shifts in theatrical presentation as long as the implications of the strategy continue in the game of semantic production with multiple horizons, and the idea in theatrical presentation tolerates multiple readings according to the refere
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The activity ·of adenosine dcaminase enzyn1e· has been investigated in normal and thalassaemic sera. The data obtaiJ1ed were refl cts an elevation of' the enzyme ctivity in thalassaemic samples compared with those of healthy normal objects. The study was carried out with (6.5)PH value and 37C as ma.x.Lmum temperature. This study was comprehensive to the electrophopretic behavior of the hemolysate serum in a step of electrophoresis analysis of the thalassaemic-and normal hemoglobin.
Conclusion The observation of the phenomenon of structural evolution of the international system and its instability on a particular situation, by its transition from unipolar to polarity to bipolarism and then to unilateralism in the early 1990s led by the United States, and to the present moment, To say that the structure by which the hierarchy of superpowers or the regime is directed in terms of its various capacities that qualify it, and with the consent of the rest of the States directing the regime to lead and lead the world's first place, has no direct relation to the stability of this system, I hope other more influential in its stability. The structure of the new international order will be completely different in terms of the r
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we conclude that Alaotaby in his Designation, with respect to defects in speech or speech pathology, he cited a number of terms function on speech defects in voice and accent like , Aphasia, Alokla, Alaay, Alramz, Alhasr, Alfadm,and Alaghop, and pointed to the sound stop as a result of an accident or a problem or the speech organ deny the will of the speech, which refers to the refrain defect in sound organic.
He also marked the disorders individual sound caused by the bug of sample and disability among individual like Alokla, node and aphasia - which hinders communication as well as other factors such as irregular sound product and not reporting to be into the future toward the Aljamjamah and whispering, and it can be said that he po
Examining the pictures of the scientific miracles in Surat Al-Ra’d revealed to us - as all other verses of miracles revealed - the truth of the prophecy of our noble Messenger (may God bless him and his family and grant him peace) in receiving the verses of the Qur’an from God Almighty through revelation. It is not possible to talk about cosmic phenomena and their secrets in this way. Fourteen centuries ago, when scientific techniques, observational devices, space surveys, and means of science were non-existent, except for what is related to eye observation, transmitted experiences, and even observation is unable to explain many phenomena near as well as distant ones. The interpretations that are tainted by myth in the books
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