| 000 -LEADER |
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| fixed length control field |
02368nam a22002057a 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20161215123735.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
161215b2016 xxu||||| |||| 00| 0 eng d |
| 041 ## - LANGUAGE CODE |
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| Language code of text/sound track or separate title |
eng |
| 082 ## - DEWEY DECIMAL CLASSIFICATION NUMBER |
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| Classification number |
2627-T |
| 100 ## - MAIN ENTRY--AUTHOR NAME |
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| Personal name |
Hafiz Qamar Abbas (2014-VA-214) |
| 110 ## - MAIN ENTRY--CORPORATE NAME |
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| Location of meeting |
Dr. Muhammad Yasir Zahoor |
| 245 ## - TITLE STATEMENT |
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| Title |
Homology & Polymorphism Analysis Of Cc2d1a Gene In Human And Canine For Cognitive Function |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) |
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| Year of publication |
2016. |
| 300 ## - PHYSICAL DESCRIPTION |
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| Number of Pages |
52p.; |
| 502 ## - DISSERTATION NOTE |
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| Dissertation note |
Cognitive disability is a group of genetically heterogeneous abnormality that leads to variable degrees of cognition deficits. It has been shown that inherited disorders can be caused by mutations in large number of different genes and there is evidence for the presence of as yet unknown genes in a significant proportion of patients. This disease can affect 1-3% of overall population and higher in consanguineous families. We aimed to identifying the homology and polymorphism of the gene CC2D1A between human and canines. The present research work was carried out in four phases. The first phase was including enrolment of 10 affected non relevant families with disease history and consent was taken on consent forms as approved by IRB, UVAS. Secondly DNA extraction was done by using standard lab protocols. Thirdly amplification of the selected domains of selected gene (CC2D1A) was done through PCR amplification after designing primers of the selected domains. Sequencing of the amplified products has to be done through Sanger method and mutation analysis was conducted for variants We found two new asynonymous mutation one is deletion of c. 1664_1664delA which lead to the change in the normal function of protein (88%) and other is heterozygous mutation c.1921A/T that result in amino acid change from R to W (12%). Whereas homology analysis shows that deletion region is partially conserved as it code different amino acid but some key domains are conserved. This homology shows that deletion in this region can change the protein expression which can relate to unconscious condition like behavioral or mental retardation. This will be helpful in providing genetic counseling services to indigenous population for intellectual disability cases. |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical Term |
Molecular Biology and Biotechnology |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Dr. Wasim Shehzad |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Personal name |
Dr. Saadat Ali |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Thesis |
