Human Genetics and Molecular Medicine-Master Dissertationhttp://kr.cup.edu.in/handle/32116/17802024-03-29T15:31:03Z2024-03-29T15:31:03ZAnalysis of PCNT gene coding sequence in subjects with Microcephalic Osteodysplastic Primordial Dwarfism Type IIGautam, Sakshamhttp://kr.cup.edu.in/handle/32116/18972024-01-18T10:36:27Z2018-01-01T00:00:00ZAnalysis of PCNT gene coding sequence in subjects with Microcephalic Osteodysplastic Primordial Dwarfism Type II
Gautam, Saksham
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
2018-01-01T00:00:00ZAnalysis of exonic region of PCNT gene in
Microcephalic Osteodysplastic Primordial Dwarfism
Type II subjectsGupta, Nehahttp://kr.cup.edu.in/handle/32116/18982024-01-18T10:36:24Z2018-01-01T00:00:00ZAnalysis of exonic region of PCNT gene in
Microcephalic Osteodysplastic Primordial Dwarfism
Type II subjects
Gupta, Neha
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.
2018-01-01T00:00:00ZPsychological Burden Faced By Vitiligo Patients: A Comparative Study In Kerala And PunjabG, Ameethahttp://kr.cup.edu.in/handle/32116/18992024-01-18T10:36:24Z2018-01-01T00:00:00ZPsychological Burden Faced By Vitiligo Patients: A Comparative Study In Kerala And Punjab
G, Ameetha
Vitiligo is a common chronic skin disease having unknown aetiology, which causes
a disfigurement and variable amount of skin and hair depigmentation and may
affect a patient?s quality of life. To assess the psychological burden and
epidemiologic profile of various age groups of patients affected by vitiligo in the
southernmost district of the coastal state of Kerala and southern part of Punjab. All
were investigated in a door- to- door survey. The questionnaire consisted of two
sections, including psychological burden and their epidemiologic profile of various
age groups. The questionnaire assigned contained questions about vitiligo
characteristics such as the body surface area affected, skin tone, affected by
genital vitiligo or not, marriage life and their sexual relationship, stigmatised
conditions facing, whether or not affected areas were covered by dresses. 40% of
males and 60 % of females were affected by vitiligo in Kerala but in Punjab males
were more affected than females i.e. 60% and 40% respectively. The present
study revealed that in Kerala and Punjab 25% of vitiligo patients were reported
within the age group of 51-60 years and 20% within the age group of 21-30 years.
More than 25% patients in Kerala and Punjab were fully affected with the vitiligo
and the quality of life was impaired more in those patients and to a greater extent
in women is more seen. About 76% of patients admitted of feeling self-conscious
about their skin in Kerala whereas in Punjab 24% were affected.
2018-01-01T00:00:00ZAssociation of UGT1A6 2 (Ser7Ala) polymorphism with therapeutic response to aspirin in ischemic stroke patientsKumar, Dharmendrahttp://kr.cup.edu.in/handle/32116/18952024-01-18T10:36:27Z2018-01-01T00:00:00ZAssociation of UGT1A6 2 (Ser7Ala) polymorphism with therapeutic response to aspirin in ischemic stroke patients
Kumar, Dharmendra
Ischemic stroke occurs due to the formation of thrombus or embolism within the arteries
due to platelet aggregation. Aspirin therapy is used for the prevention of secondary
stroke. The variant of UGT1A6 (Ser7Ala) gene has been found to be associated with
ischemic stroke as well as aspirin resistance. We aim to study the demographic profile
of ischemic stroke patients from Malwa region of Punjab and to evaluate the frequency
of UGT1A6*2 Ser7Ala polymorphism and correlate it with aspirin resistance and ADRs
(if any). We collected 30 samples from confirmed ischemic stroke patients from Guru
Gobind Singh Medical College and Hospital in Malwa region of Punjab. DNA was
isolated from blood and PCR- RFLP technique was used to evaluate the UGT1A6 gene
variant in the patients. mRS value was used to classify patients as responders or nonresponders.
24 patients had TT genotype and 6 patients were found to bear TG
genotype. 90% of patients were aspirin responders and 10% were aspirin nonresponders.
Since the sample size was too low to identify significant associations, a
large number of samples should be screened before coming to a conclusion. However,
this preliminary study indicates that UGT1A6*2 (Ser7Ala) variant of UGT1A6 gene
might be a risk factor for aspirin resistance in the studied group.
2018-01-01T00:00:00Z