000			02368nam a22002057a 4500
005			20161215123735.0
008			161215b2016 xxu||||| |||| 00| 0 eng d
041			_aeng
082			_a2627-T
100			_aHafiz Qamar Abbas (2014-VA-214) _927556
110			_cDr. Muhammad Yasir Zahoor _95785
245			_aHomology & Polymorphism Analysis Of Cc2d1a Gene In Human And Canine For Cognitive Function
260			_c2016.
300			_a52p.;
502			_aCognitive 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			_aMolecular Biology and Biotechnology _927557
700			_aDr. Wasim Shehzad _98918
700			_aDr. Saadat Ali _924846
942			_cTH
999			_c9857 _d9856