Development Of EZ DNA Diagnostic Kit For The Detection Of Homozygous Deletion Of SMN1 Gene In Spinal Muscular Atrophy (SMA) Patients

Spinal Muscular Atrophy (SMA) is the second most frequent fatal autosomal recessive disorder of childhood. The incidence of this disease is approximately 1 in 10000 live births. SMA is characterized by progressive muscle weakness resulting from degeneration and loss of motor neurons in the anteri...

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Main Author:	Marzuki, Marini
Format:	Thesis
Language:	English
Published:	2012
Subjects:	R735-854 Medical education Medical schools Research
Online Access:	http://eprints.usm.my/45661/1/Marini%20Marzuki_HJ.pdf
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id	my-usm-ep.45661
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spelling	my-usm-ep.456612019-10-15T08:20:51Z Development Of EZ DNA Diagnostic Kit For The Detection Of Homozygous Deletion Of SMN1 Gene In Spinal Muscular Atrophy (SMA) Patients 2012-02 Marzuki, Marini R735-854 Medical education. Medical schools. Research Spinal Muscular Atrophy (SMA) is the second most frequent fatal autosomal recessive disorder of childhood. The incidence of this disease is approximately 1 in 10000 live births. SMA is characterized by progressive muscle weakness resulting from degeneration and loss of motor neurons in the anterior horn of spinal cord. The responsible genes for SMA are Survival of Motor Neuron (SMN). SMN1 and SMN2 genes share over 99.8% sequence homology and they can be distinguished by base changes in both exons 7 and 8. SMN1 gene is not detectable in majority of SMA cases due to either deletion or conversion. Conventionally, the homozygous deletion of SMN1 gene is detected using Polymerase Chain Reaction-Restriction Enzyme (PCR-RE) method. This method is time consuming, expensive and requires restriction enzyme digestion and a considerably high amount of amplified DNA to be visible after digestion. This may lead to false-negative results. To avoid these problems, we have developed an alternative method using an allele-specific primer for the molecular diagnosis of SMA which is more time-saving and cost-effective. The freeze dry platform was applied to the multiplex AS-PCR for the development of a thermostabilize diagnostic kit. A total of one hundred and forty three samples of clinically suspected SMA were included in this study. Conventional molecular diagnosis using PCR-RE was done to detect the presence or absent of SMN1 deletion in these samples. 2012-02 Thesis http://eprints.usm.my/45661/ http://eprints.usm.my/45661/1/Marini%20Marzuki_HJ.pdf application/pdf en public masters Universiti Sains Malaysia Pusat Pengajian Sains Perubatan
institution	Universiti Sains Malaysia
collection	USM Institutional Repository
language	English
topic	R735-854 Medical education Medical schools Research
spellingShingle	R735-854 Medical education Medical schools Research Marzuki, Marini Development Of EZ DNA Diagnostic Kit For The Detection Of Homozygous Deletion Of SMN1 Gene In Spinal Muscular Atrophy (SMA) Patients
description	Spinal Muscular Atrophy (SMA) is the second most frequent fatal autosomal recessive disorder of childhood. The incidence of this disease is approximately 1 in 10000 live births. SMA is characterized by progressive muscle weakness resulting from degeneration and loss of motor neurons in the anterior horn of spinal cord. The responsible genes for SMA are Survival of Motor Neuron (SMN). SMN1 and SMN2 genes share over 99.8% sequence homology and they can be distinguished by base changes in both exons 7 and 8. SMN1 gene is not detectable in majority of SMA cases due to either deletion or conversion. Conventionally, the homozygous deletion of SMN1 gene is detected using Polymerase Chain Reaction-Restriction Enzyme (PCR-RE) method. This method is time consuming, expensive and requires restriction enzyme digestion and a considerably high amount of amplified DNA to be visible after digestion. This may lead to false-negative results. To avoid these problems, we have developed an alternative method using an allele-specific primer for the molecular diagnosis of SMA which is more time-saving and cost-effective. The freeze dry platform was applied to the multiplex AS-PCR for the development of a thermostabilize diagnostic kit. A total of one hundred and forty three samples of clinically suspected SMA were included in this study. Conventional molecular diagnosis using PCR-RE was done to detect the presence or absent of SMN1 deletion in these samples.
format	Thesis
qualification_level	Master's degree
author	Marzuki, Marini
author_facet	Marzuki, Marini
author_sort	Marzuki, Marini
title	Development Of EZ DNA Diagnostic Kit For The Detection Of Homozygous Deletion Of SMN1 Gene In Spinal Muscular Atrophy (SMA) Patients
title_short	Development Of EZ DNA Diagnostic Kit For The Detection Of Homozygous Deletion Of SMN1 Gene In Spinal Muscular Atrophy (SMA) Patients
title_full	Development Of EZ DNA Diagnostic Kit For The Detection Of Homozygous Deletion Of SMN1 Gene In Spinal Muscular Atrophy (SMA) Patients
title_fullStr	Development Of EZ DNA Diagnostic Kit For The Detection Of Homozygous Deletion Of SMN1 Gene In Spinal Muscular Atrophy (SMA) Patients
title_full_unstemmed	Development Of EZ DNA Diagnostic Kit For The Detection Of Homozygous Deletion Of SMN1 Gene In Spinal Muscular Atrophy (SMA) Patients
title_sort	development of ez dna diagnostic kit for the detection of homozygous deletion of smn1 gene in spinal muscular atrophy (sma) patients
granting_institution	Universiti Sains Malaysia
granting_department	Pusat Pengajian Sains Perubatan
publishDate	2012
url	http://eprints.usm.my/45661/1/Marini%20Marzuki_HJ.pdf
_version_	1747821541634080768

Development Of EZ DNA Diagnostic Kit For The Detection Of Homozygous Deletion Of SMN1 Gene In Spinal Muscular Atrophy (SMA) Patients

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