School Of Health Sciences

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Now showing 1 - 4 of 4
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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.
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    Analysis of PCNT gene coding sequence in subjects with Microcephalic Osteodysplastic Primordial Dwarfism Type II
    (Central University of Punjab, 2018) Gautam, Saksham; Khetarpal,Preeti
    Pericentrin (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 covered
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    Potential Mitochondrial-Specific Function Of piRNAs
    (Central University of Punjab, 2018) Paul, Shouvik; Singh, Sandeep
    Piwi-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.
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    Frequency of pathogenic germline mutations in cancer susceptibility genes in breast cancer patients
    (Humana Press Inc., 2018) Kaur, Raman Preet; Shafi, Gowhar; Benipal, Raja Paramjeet Singh; Munshi, Anjana
    In this study, we evaluated the incidence of pathogenic germline mutations in 30 breast cancer susceptibility genes in breast cancer patients. Our aim was to understand the involvement of the inherited mutations in these genes in a breast cancer cohort. Two hundred ninety-six female breast cancer patients including 4.5% of familial breast cancer cases were included in the study. 200?ng of genomic DNA was used to evaluate the pathogenic mutations, detected using Global Screening Array (GSA) microchip (Illumina Inc.) according to the manufacturer?s instructions. The pathogenic frameshift and nonsense mutations were observed in BRCA2 (10.9%), MLH1 (58.6%), MTHFR (50%), MSH2 (14.2%), and CYTB (52%) genes. Familial breast cancer patients (4.5%) had variations in BRCA2, MLH1, MSH2, and CYTB genes. 28% of patients with metastasis, recurrence, and death harbored mono/biallelic alterations in MSH2, MLH1, and BRCA2 genes. The results of this study can guide to develop a panel to test the breast cancer patients for pathogenic mutations, from Malwa region of Punjab. The screening of MSH2, MLH1, and BRCA2 should be carried in individuals with or without family history of breast cancer as these genes have been reported to increase the cancer risk by tenfold. ? 2018, Springer Science+Business Media, LLC, part of Springer Nature.