The presence of single-nucleotide polymorphisms in hps4 gene in a subset of schizophrenic patients in Pahang: a preliminary study

Schizophrenia is a devastating mental disorder that affects people’s normal life with heterogeneous features of its clinical presentation, as well as its molecular attribute. In order to identify the potential molecular aberration, particularly single nucleotide polymorphism (SNP) which could be imp...

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Main Authors: Zainuddin, Norafiza, Mamat, Maizatul Akma, A. Talib, Norlelawati
Format: Article
Language:English
Published: International Islamic University Malaysia 2017
Subjects:
Online Access:http://irep.iium.edu.my/62048/
http://irep.iium.edu.my/62048/
http://irep.iium.edu.my/62048/12/61629_THE%20PRESENCE%20OF%20SINGLE-NUCLEOTIDE_complete.pdf
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spelling iium-620482018-02-19T03:37:25Z http://irep.iium.edu.my/62048/ The presence of single-nucleotide polymorphisms in hps4 gene in a subset of schizophrenic patients in Pahang: a preliminary study Zainuddin, Norafiza Mamat, Maizatul Akma A. Talib, Norlelawati QH426 Genetics RA790 Public Health. Hygiene. Preventive Medicine - Mental Health. Mental Illness Prevention Schizophrenia is a devastating mental disorder that affects people’s normal life with heterogeneous features of its clinical presentation, as well as its molecular attribute. In order to identify the potential molecular aberration, particularly single nucleotide polymorphism (SNP) which could be important in the aetiology of schizophrenia, polymerase chain reaction (PCR)-DNA sequencing approach was utilized for targeting the exon (and intron) 9 of the Hermansky-Pudlak syndrome type 4 (HPS4) gene. DNAs were extracted from peripheral blood of nine schizophrenic patients and one normal individual prior to PCR-DNA sequencing. Following DNA sequencing, a SNP (A>G) which is rs713998 at nucleotide position 22618 of exon 9 of the HPS4 gene was observed in eight schizophrenia samples. Moreover, DNA sequencing results also revealed an intronic aberration/SNP which is rs3747129 (C>T) at nucleotide position 22789 of intron 9 of the HPS4 gene in four schizophrenia samples. A SNP which is rs739289 (G>T) at nucleotide position 22677 of the intron was also found in eight schizophrenia samples. The importance of both the exonic and intronic aberrations is yet to be confirmed with further research involving larger population and other relevant clinical parameters. That notwithstanding, these preliminary results suggested that single nucleotide aberrations, particularly SNPs might have a role in the development of schizophrenia. International Islamic University Malaysia 2017 Article PeerReviewed application/pdf en http://irep.iium.edu.my/62048/12/61629_THE%20PRESENCE%20OF%20SINGLE-NUCLEOTIDE_complete.pdf Zainuddin, Norafiza and Mamat, Maizatul Akma and A. Talib, Norlelawati (2017) The presence of single-nucleotide polymorphisms in hps4 gene in a subset of schizophrenic patients in Pahang: a preliminary study. International Journal of Allied Health Sciences, 1 (2). pp. 14-27. E-ISSN 2600-8491 http://journals.iium.edu.my/ijahs/index.php/IJAHS/index
repository_type Digital Repository
institution_category Local University
institution International Islamic University Malaysia
building IIUM Repository
collection Online Access
language English
topic QH426 Genetics
RA790 Public Health. Hygiene. Preventive Medicine - Mental Health. Mental Illness Prevention
spellingShingle QH426 Genetics
RA790 Public Health. Hygiene. Preventive Medicine - Mental Health. Mental Illness Prevention
Zainuddin, Norafiza
Mamat, Maizatul Akma
A. Talib, Norlelawati
The presence of single-nucleotide polymorphisms in hps4 gene in a subset of schizophrenic patients in Pahang: a preliminary study
description Schizophrenia is a devastating mental disorder that affects people’s normal life with heterogeneous features of its clinical presentation, as well as its molecular attribute. In order to identify the potential molecular aberration, particularly single nucleotide polymorphism (SNP) which could be important in the aetiology of schizophrenia, polymerase chain reaction (PCR)-DNA sequencing approach was utilized for targeting the exon (and intron) 9 of the Hermansky-Pudlak syndrome type 4 (HPS4) gene. DNAs were extracted from peripheral blood of nine schizophrenic patients and one normal individual prior to PCR-DNA sequencing. Following DNA sequencing, a SNP (A>G) which is rs713998 at nucleotide position 22618 of exon 9 of the HPS4 gene was observed in eight schizophrenia samples. Moreover, DNA sequencing results also revealed an intronic aberration/SNP which is rs3747129 (C>T) at nucleotide position 22789 of intron 9 of the HPS4 gene in four schizophrenia samples. A SNP which is rs739289 (G>T) at nucleotide position 22677 of the intron was also found in eight schizophrenia samples. The importance of both the exonic and intronic aberrations is yet to be confirmed with further research involving larger population and other relevant clinical parameters. That notwithstanding, these preliminary results suggested that single nucleotide aberrations, particularly SNPs might have a role in the development of schizophrenia.
format Article
author Zainuddin, Norafiza
Mamat, Maizatul Akma
A. Talib, Norlelawati
author_facet Zainuddin, Norafiza
Mamat, Maizatul Akma
A. Talib, Norlelawati
author_sort Zainuddin, Norafiza
title The presence of single-nucleotide polymorphisms in hps4 gene in a subset of schizophrenic patients in Pahang: a preliminary study
title_short The presence of single-nucleotide polymorphisms in hps4 gene in a subset of schizophrenic patients in Pahang: a preliminary study
title_full The presence of single-nucleotide polymorphisms in hps4 gene in a subset of schizophrenic patients in Pahang: a preliminary study
title_fullStr The presence of single-nucleotide polymorphisms in hps4 gene in a subset of schizophrenic patients in Pahang: a preliminary study
title_full_unstemmed The presence of single-nucleotide polymorphisms in hps4 gene in a subset of schizophrenic patients in Pahang: a preliminary study
title_sort presence of single-nucleotide polymorphisms in hps4 gene in a subset of schizophrenic patients in pahang: a preliminary study
publisher International Islamic University Malaysia
publishDate 2017
url http://irep.iium.edu.my/62048/
http://irep.iium.edu.my/62048/
http://irep.iium.edu.my/62048/12/61629_THE%20PRESENCE%20OF%20SINGLE-NUCLEOTIDE_complete.pdf
first_indexed 2023-09-18T21:27:58Z
last_indexed 2023-09-18T21:27:58Z
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