Human Genetics And Molecular Medicine - Master Dissertation

Permanent URI for this collectionhttps://kr.cup.edu.in/handle/32116/104

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Analysis of exonic region of PCNT gene in Microcephalic Osteodysplastic Primordial Dwarfism Type II subjects
(Central University of Punjab, 2018) Gupta, Neha; Khetarpal, Preeti
MOPD 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.
Bioinformatic Analysis of Whole Exome Data
(Central University of Punjab, 2018) Md Momin Ali; Khetarpal, Preeti
Whole Exome Sequencing (WES) is a capture-based method developed to sequence exome and to identify variants in the coding region of genes that affect protein function. Understanding the exomes of individuals at single base resolution allows the identification of pathogenic variants responsible for causing genetic disease. In this paper we mentioned all the object of the project steps and bioinformatic computational tools involved step by step. The objective of the study was to find all the disease causing heterozygous variants in the proband from the WES data. Using in silico tools SIFT, PolyPhen and ANNOVAR. All the annotated non-synonymous SNPs was arranged and filtered according to the pathogenicity of variants. All the variants were narrowed down to five matching variants. associated with clinical phenotype of the proband. As a conclusion Bioinformatic analysis of WES data proved to be a good tool for finding disease causing variants. Majority of the tools used in the analysis are generally linux based with poor user interface which makes it a challenging experience for a non-computational individual. Future of this field is dependent on software developers, so that more people can understand and help in the progress.
Investigation for Maternal Uniparental Disomy of Chromosome 7 in a Silver Russell Syndrome patient
(Central University of Punjab, 2018) Gupta, Swati; Khetarpal, Preeti
Silver-Russell syndrome (SRS) is a genetically heterogeneous disorder. Individuals with SRS show clinical features with varying severity. The major criteria for clinical diagnosis of SRS are intrauterine growth retardation (IUGR) accompanied with post natal growth retardation (PNGR) and relative macrocephaly, triangular face, feeding difficulties, fifth finger clinodactyly. Maternal Uniparental disomy of chromosome 7 had been implicated in 10% of SRS cases; in about 1% cases, structural chromosomal aberrations has been reported and in about 45% cases, epimutation have been detected in Imprinting control region (ICR1) of 11p region. Aetiology of remaining cases unknown. To investigate Maternal Uniparental Disomy of chromosome 7 in a Silver Russell Syndrome patient. The sample was collected of female patient suggested of SRS, clinically diagnosed with relative macrocephaly, mild facial asymmetry with postnatal growth retardation. The present study had been undertaken with an objective to detect maternal Uniparental disomy of chromosome 7 using locus specific primers to amplify STR loci by PCR. PCR products were visualized on 7.5% native Polyacrylamide Gel Electrophoresis (PAGE). On analysing the gel, matUPD7 was ruled out. Patient recruited in this study was an isolated cases with no previous incidence in the family.