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.
Abstract Background: Crown lengthening is a surgical procedure that apically positions the gingival edge and/or removes supporting bone in order to increase the amount of supra gingival tooth structure for restorative or cosmetic purposes.
The objective of the study: The purpose of this study was to evaluate the efficacy of the 940nm diode laser in esthetic crown lengthening surgery through clinical observations, patient questionnaires, clinical photographs, and gingival healing following gingival operations. Material and methods: In this randomized clinical trial, 16 patients (11 females and 5 males) had their crowns surgically lengthened using a diode laser (940 nm) in continuou
... Show MoreIn this paper, we will introduce a new concept of operators in b-Hilbert space, which is respected to self- adjoint operator and positive operator. Moreover we will show some of their properties as well as the relation between them.
Thanks and gratefulness be to Allah , the most merciful , and prayers be on his messenger and our prophet mohammed and his descendants.The voices have great influence on the diversity of methods of complaints and implication in the Qur'anic expression through
their inspiration , forms and notes. They also have influence on performing semantic and psychological condition of the emitter . that is because of the connection between the complaints and human behavior and emotions , since it is considered as the outlet by which the human expresses his repressed desired and instincts . he resorted to it " when he is helpless physically and mentally i.e. he cannot reach his goals or satisfy his needs." Complaints come from deprivation , social
the present study is designed to evaluate the effect of low level laser irradiation on the immume system when administere intravenoisly
The study aimed at clarifying the contradictions of the general industrial companies despite the investment allocations and the government investment expenditure on manufacturing activities under the so- called rehabilitation programs. However, this did not contribute to a certain extent in the growth and industrial leap in the direction of developing the activities of the sector Industrial sector in Iraq because of the lack of adoption of a number of basic principles towards the need to take priority of investment in the field of manufacturing and industrial decision-making in the restructuring of industry according to the priorities of investment in light of the international industrial trend, Tosmarah available to the manufact
... Show MoreBackground: Laparoscopic cholecystectomy
has become the standard of care for the
elective management of cholelithiasis. Little
information exists, however, regarding the
appropriateness of this procedure in the setting
of acute symptomatology.
Objective: This study was designed to
evaluate the outcome of laparoscopic
cholecystectomy in acute and severe acute
cholecystitis based on early and late biliary
complications, their incidence and
management, and conversion rates to open
surgery.
Methods: A prospective study done between
April 2007 and November 2010, in the
department of general surgery, medical city
teaching hospital, Baghdad. Includes patients
with acute cholecystitis admitted f
English law defines different types of fraud, and we do not find a counterpart in other legislations, relying on its distinction on the criterion of knowledge of the truth of the information presented, that is, determining the type of fraud depends on the extent of the owner of false evidence that it is not correct at the time of its issuance. These false statements are either issued from Accompanying the owner with his full knowledge of its content and in a way that makes it a presumption that proves his bad intention so that fraud is not innocent, or that it is issued by indiscretion and negligence and without a reasonable and logical basis on which it is based, then fraud is negligently, and finally that this data is issued by its own
... Show MoreAbstract The dissemination of knowledge is no longer confined to schools and universities, not even books. For nearly two centuries, the media have become prominent in disseminating knowledge and culture, in its public and particularly political aspects. After the development of the media from newspapers and magazines to the visual media, their role has increased from the dissemination of abstract information and abstract knowledge towards the process of forming new knowledge through what it publishes and broadcasts from different programs such as drama, news and talk shows. The impact of the media has changed the overall community awareness. Half a century ago the media was not so powerful and widespread. The evolution of the 1990s made
... Show MorePhotodecomposition of dichlorobis N [4-Azo benzene aniline)2-hydroxy benzilidene] Copper (II) (Complexe A1) and dichloro N[2-Azo 3- sulphonic -2- naphthol) 6- carboxylic 2- hydroxy benzilidene] copper (II) (Complex A2).have been performed at λ = 373 nm for complex A1and at λ = 358 nm for complex A2 in dimethyl sulphoxide at 25C◦. the absorbance spectrum of these complexes have been recorded with time of irradiation in order to examine the kinetics of photodecay. The apparent rate constant (Kd) for the first order reaction has been calculated and found to be 1.1 ×10-2 min-1 for complexe A1 and 2.34 × 10-2 min-1 for camplexe A2. the primary quantum yields (Ø ) ha
... Show MoreBACKGROUND: In 1972 complete description of the
inflammation of posterior third of the vocal cords was
done, with barium swallow confirming Gastro
Esophageal Disease [CRED] & subsequent successful
symptomatic treatment with antacid. The possible
association between GERD & chronic laryngitis was
initially known as acid laryngitis .2
*from the Department of ENT, Hawlear Medical College, Hawlear university. Department of ENT, Rezgary Teaching Hospital, Erbil.
Correspondence to :
Dr.Said Mustafa Said
Corespondence Address to : Dr.Said Mustafa Said _ E- mail: Email [email protected] Mob. 07504563829
Recived at : 15 th Dec 2009 Accepted at : 3ed Nov 2010
OBJECTIVE: To record the common presentat
... Show More