Human Genetics And Molecular Medicine - Master Dissertation
Permanent URI for this collectionhttps://kr.cup.edu.in/handle/32116/104
Browse
3 results
Search Results
Item Analysis of exonic region of PCNT gene in Microcephalic Osteodysplastic Primordial Dwarfism Type II subjects(Central University of Punjab, 2018) Gupta, Neha; Khetarpal, PreetiMOPD II is an autosomal recessive disorder. It is characterised by the presence of intra uterine growth retardation as well as post natal growth retardation. The adult height is not more than 100 cm. It has been found that mutation in PCNT gene is associated with MOPD II. The cytogenetic location of this gene is 21q22.3 and it contains 47 exons. It encodes for PCNT protein which is a very large coiled scaffold protein and helps in microtubule polymerisation ensuring proper cell division. Till date 74 mutations have been identified this includes deletion, stop, frame shift and non sense mutation. The present study was carried out to analyse the exonic region of PCNT gene in Microcephalic Osteodysplastic Primordial Dwarfism Type II subjects. As it is an autosomal rescessive disorder both male and female were equally affected. The study included three subjects diagnosed with MOPD II .The DNA was extracted from whole blood and was amplified using locus specific primers. The products were sequenced using Sanger sequencing and were analysed. Total 12 variants were detected and 2 of which were pathogenic and 2 were synonymous and remaining 8 were polymorphic variants. 3 were present in exon 44 and 1 in exon 31 .These 3 variants were found to be present in all four subjects while 1 was present in only one subject. Change in nucleotide sequence may produce deleterious affect which is needed to be explored along with the complete structure of PCNT protein.Item Analysis of PCNT gene coding sequence in subjects with Microcephalic Osteodysplastic Primordial Dwarfism Type II(Central University of Punjab, 2018) Gautam, Saksham; Khetarpal,PreetiPericentrin (PCNT) is a main scaffold protein of Centrosome. It is encoded by PCNT gene which comprises of 47 exons and its cytogenetic location is 21q22.3. PCNT is a large protein containing 3336 amino acids. In PCNT protein two coiled-coil domains are bounded by a non-coiled region. Various mutations like non-sense, stop and deletion in PCNT are linked with human disorder Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). The current project was carried out with an objective to analyze the coding region of PCNT gene among MOPDII patients. The DNA extracted from blood was amplified using locus specific primers for 30 exons of PCNT gene. Amplified PCR products were sequenced using chain termination method and obtained sequence contigs were then analyzed by comparing with reference sequence. After analyzing - exon sequence contigs in 3 subjects, 17 variants were identified. There is need to amplify remaining 17 exons of PCNT gene for the identification of novel mutation in subjects with MOPDII. Homozygous or compound heterozygous PCNT mutation could not be identified in our study in the PCNT coding region coveredItem Potential Mitochondrial-Specific Function Of piRNAs(Central University of Punjab, 2018) Paul, Shouvik; Singh, SandeepPiwi-interacting RNAs (piRNAs) are (26-31 nt) small noncoding RNAs processed from their longer precursor transcripts with the help of Piwi proteins. There are more than 30,000 piRNA genes present in the human genome which now turns out to be emerging player in both homeostasis and diseases. Localization of piRNA and PIWI in the repeat region of the mammalian nuclear genome in germ cells has been reported, although localization and potential functional role of piRNA in the mammalian mitochondrial genome are largely unknown. We have taken 111 piRNA sequences found in the MCF-7 mitochondrial genome, which is obtained by NGS analysis for alignment study. Resulting piRNA have been aligned with DQ112870 North American Homo sapiens mitochondrion genome for studying post- transcriptional roles of piRNA.