| dc.contributor.author | Gupta, Neha | |
| dc.date.accessioned | 2018-08-31T04:13:45Z | |
| dc.date.available | 2018-08-31T04:13:45Z | |
| dc.date.issued | 2018 | |
| dc.identifier.citation | Gupta, Neha (2018) Analysis of exonic region of PCNT gene in
Microcephalic Osteodysplastic Primordial Dwarfism
Type II subjects | en_US |
| dc.identifier.uri | http://kr.cup.edu.in/handle/32116/1898 | |
| dc.description.abstract | 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. | en_US |
| dc.language.iso | en_US | en_US |
| dc.publisher | Central University of Punjab | en_US |
| dc.subject | PCNT | en_US |
| dc.subject | MOPD type II | en_US |
| dc.subject | Mutations | en_US |
| dc.subject | structure | en_US |
| dc.subject | Primordial dwarfism | en_US |
| dc.subject | IUGR | en_US |
| dc.subject | PNGR | en_US |
| dc.subject | Variants | en_US |
| dc.title | Analysis of exonic region of PCNT gene in
Microcephalic Osteodysplastic Primordial Dwarfism
Type II subjects | en_US |
| dc.type | Master Dissertation | en_US |
| dc.contributor.supervisor | Khetarpal, Preeti | |
| dc.identifier.accessionno | T00680 | |
