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Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients
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Abstract<sec> <title>Background

Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed patients had typical, moderate-severe clinical presentation and course of the disease. Molecular analysis was performed on the majority of enrolled patients using the CF-stripAssay® kit supplied by ViennaLab diagnostics, GmbH, Austria.

Results

The mutation-detection rate from the tested 34 mutations in this study was 19.5% and the 8 detected mutations were as follows: 3120+1G>A and W1282X were found in 3 (4.17%) patients each; F508del and R1162X were found in 2 (2.78%) patients each; 3272-26A>G, R347P, I507del, and 2183AA>G were found in 1 (1.38%) patient each. Polymorphic variants of IVS8, namely 5T, 7T, and 9T, were detected in ~ 70%. These results were nearly similar to what was reported in regional countries.

Conclusion

Cystic fibrosis seems to be not rare as previously thought. 3120+1G>A and W1282X are the two most commonly detected mutations. F508del needs to be included in all future tests, while the I507del mutation was uniquely reported in this study but not in regional studies.

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Publication Date
Sun Dec 05 2010
Journal Name
Baghdad Science Journal
Effect of alcohol and hot aqueous extracts for Leaves of Adhatodavasicaon the 1st larval instars ofMuscadomestica L.(Diptera: Muscidae)
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The present study aimed to investigate the effects of alcohol and hot aqueous extracts for leaves of Adhatoda vasica on, first larval instars Musca domestica. They were exposed to the suggested concentrations of alcoholic extract which were (500, 1000, 1500, 2000) PPM while the suggested concentrations of the hot aqueous extracts (500, 1000, 1500, 2000, 2500)PPM. The alcoholic (Methanol) extract of leaves was much effective on to killing the first larval instars of the M. domestica than hot aqueous extract.

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Publication Date
Fri Mar 28 2025
Journal Name
Journal Of Physical Education
The Effect of Soft Toss Machine Training on Some Kinematic Variables and backhand accuracy of Tennis Players U16 years
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The importance of the research is evident in the use of exercises with the training device, which is one of the modern techniques in teaching the abilities of players, especially in teaching the skill of the backhand, and in improving the accuracy of the performance of players and increasing the contribution to the formation of a base for the game for players who have a good level of learning and upgrading the game to reach a certain achievement, and the research issue was represented in the lack of accuracy in sending balls to the required areas to achieve points, especially in the performance of the skill of the backhand due to the speed of play during the course of the match, and the study aimed to introduce modern technology usi

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Publication Date
Fri Jun 05 2015
Journal Name
International Journal Of Science And Research
The Effect of Growth Medium and Nodes Number on the Acclimatization Success of Tissue Propagated Potatoes Seedlings Solanum tuberasum
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The experiment was conducted at the period from 20th Dec. 2015 to 30th Mar. 2016 to know the effect of growth medium and nodes number on the acclimatization success of tissue propagated potatoes seedlings (Burrin class) and study some plant physiological properties. The first experiment involved testing growth media: loam, peat moss, and perlite with different portions (1:1) to plant tissue propagated potato tubers, while the second experiment involved testing the nodes number where 9, 8, 7, 6, and 5 plant nodes were chosen. Results of the first experiment showed the superiority of the culture media of peat moss + perlite to other culture media by giving the higher values of shoot system studied properties: plant height, branches number, le

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Publication Date
Thu Jul 17 2025
Journal Name
Journal Of Baghdad College Of Dentistry
The Influence of Caries Infiltrant Combined with and without Conventional Adhesives on Sealing of Sound Enamel (In Vitro Study)
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Background: The formation of white spot lesions around fixed orthodontic attachments is a common complication during and after fixed orthodontic treatment, which hinders the result of a successfully completed orthodontic treatment. The aim of the study was to assess the effectiveness of the Caries Infiltrant (ICON®) on prevention of caries on the smooth enamel surface when applied alone or combined with conventional adhesives. Materials and methods: Seventy eight human premolar enamel discs were randomly assigned to six groups (n=13). The discs were etched and treated with resins of different monomer content forming the following groups: (1)Untreated etched samples served as the negative control, (2) ICON® (DMG), (3) Adper™ S

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Publication Date
Wed Jan 15 2020
Journal Name
Journal Of Accounting And Financial Studies ( Jafs )
The role of credit policies in agricultural development: The activity of co-operative agricultural bank as a case study
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The objective of this study is to explain the role of credit policies in agricultural development of Iraq during the period 1979-1989 which were represented by the policy of co-operative agricultural bank the organization that responsible to finance agricultural sector for various reasons. It has been shown that there was no clear credit policy existed during the period concerned due to the differences between loans from year. The loan growth rate was low in general comparing with objectives of the agricultural development plans, a low production rates comparing with loans paid, the growth rate of average number of trees in each donum and the growth rate of livestock number was also low.In conclusion there should be a clear plan for cred

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Publication Date
Sun Jan 01 2023
Journal Name
Aip Conference Proceedings
Optimization of Fenton process for removal of chemical oxygen demand (COD) from hospital wastewater using response surface methodology (RSM)
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Publication Date
Thu Nov 14 2019
Journal Name
Advances In Intelligent Systems And Computing
The Application of Bus Rapid Transit System in the City of Baquba and Its Impact on Reducing Daily Trips
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Publication Date
Tue Oct 20 2020
Journal Name
Journal Of Research In Medical And Dental Science
The Effect of Chicken Eggshell Extract on Microhardness of Artificially Induced Dental Erosion in Permanent Teeth (In Vitro Study)
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The Effect of Chicken Eggshell Extract on Microhardness of Artificially Induced Dental Erosion in Permanent Teeth (In Vitro Study), Shatha A Abbas*, Alhan A Qasim

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Publication Date
Tue Aug 09 2022
Journal Name
Journal Of Research In Medical And Dental Science
Evaluation of the Antibacterial Efficacy of Electrolyzed Oxidizing Water as an Irrigant against Enterococcus faecalis (An In vitro Study)
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Evaluation of the Antibacterial Efficacy of Electrolyzed Oxidizing Water as an Irrigant against Enterococcus faecalis (An In vitro Study), Noor A Khait*, Muna Saleem Kalaf

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Publication Date
Wed Aug 31 2022
Journal Name
Journal Of Positive School Psychology
Impact Of An Educational Program For Nursing Management About Care Of Children Treated With VP Shunt In Mosul City
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