Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin.

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dc.contributor.authorKapur, Sumanen_US
dc.contributor.authorMehra, Shipraen_US
dc.contributor.authorGajjar, Devarshien_US
dc.contributor.authorVasavada, Abhayen_US
dc.contributor.authorKapoor, Manaven_US
dc.contributor.authorSharad, Shashwaten_US
dc.contributor.authorAlapure, Bhagwaten_US
dc.contributor.authorRajkumar, Sen_US
dc.date.accessioned2009-05-23en_US
dc.date.accessioned2009-05-29T09:28:58Z
dc.date.available2009-05-23en_US
dc.date.available2009-05-29T09:28:58Z
dc.date.issued2009-05-23en_US
dc.description.abstractAim: Polymorphisms in gamma-crystallins ( CRYG ) can serve as markers for lens differentiation and eye disorders leading to cataract. Several investigators have reported the presence of sequence variations within crystallin genes, with or without apparent effects on the function of the proteins both in mice and humans. Delineation of these polymorphic sites may explain the differences observed in the susceptibility to cataract observed among various ethnic groups. An easier Restriction Fragment Length Polymorphism (RFLP)-based method has been used to detect the frequency of four single nucleotide polymorphisms (SNPs) in CRYGA / CRYGB genes in control subjects of western Indian origin. Materials and Methods: A total of 137 healthy volunteers from western India were studied. Examination was performed to exclude volunteers with any ocular defects. Polymerase chain reaction (PCR)-RFLP based method was developed for genotyping of G198A (Intron A), T196C (Exon 3) of CRYGA and T47C (Promoter), G449T (Exon 2) of CRYGB genes. Results: The exonic SNPs in CRYGA and CRYGB were found to have an allele frequency 0.03 and 1.00 for ancestral allele respectively, while frequency of non-coding SNP in CRYGA was 0.72. Allele frequency of T90C of CRYGB varied significantly ( P = 0.02) among different age groups. An in-silico analysis reveals that this sequence variation in CRYGB promoter impacts the binding of two transcription factors, ACE2 (Member of CLB2 cluster) and Progesterone Receptor (PR) which may impact the expression of CRYGB gene. Conclusions: This study establishes baseline frequency data for four SNPs in CRYGA and CRYGB genes for future case control studies on the role of these SNPs in the genetic basis of cataract.en_US
dc.description.affiliationBiological Sciences Group, Birla Institute of Technology and Science, Pilani - 333 031, Rajasthan, India. s_kapur@bits-pilani.ac.in.en_US
dc.identifier.citationKapur S, Mehra S, Gajjar D, Vasavada A, Kapoor M, Sharad S, Alapure B, Rajkumar S. Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin. Indian Journal of Ophthalmology. 2009 May-Jun; 57(3): 197-201en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/71643
dc.language.isoengen_US
dc.source.urihttps://www.ijo.inen_US
dc.source.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683433/en_US
dc.subject.meshAdolescent
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshAged
dc.subject.meshCataract --genetics
dc.subject.meshChild
dc.subject.meshChild, Preschool
dc.subject.meshFemale
dc.subject.meshGene Frequency
dc.subject.meshGenetics, Population
dc.subject.meshGenotype
dc.subject.meshHumans
dc.subject.meshIndia
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshPolymerase Chain Reaction
dc.subject.meshPolymorphism, Restriction Fragment Length
dc.subject.meshPolymorphism, Single Nucleotide
dc.subject.meshgamma-Crystallins --genetics
dc.subject.otherIntrons --genetics
dc.titleAnalysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin.en_US
dc.typeJournal Articleen_US
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