Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on TaqMan® real-time PCR
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چکیده
منابع مشابه
Molecular Analysis of Spinal Muscular Atrophy: A genotyping protocol based on TaqMan® real-time PCR
Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in the survival motor neuron I (SMN1) gene. SMA patients are classified as type I-IV based on severity of symptoms and age of onset. About 95% of SMA cases are caused by the homozygous absence of SMN1 due to gene deletion or conversion into SMN2. PCR-based methods have been widely used in genetic te...
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Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...
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BACKGROUND Autosomal recessive spinal muscular atrophy is a disease resulting from homozygous absence of SMN1 gene in approximately 94% of SMA patients. To identify patients who retained a single SMN1 copy, SMN1 dosage analysis was performed by quantitative Real-time PCR using SYBR green dye. SMN1 dosage analysis results were utilized to identify carriers before offering prenatal diagnosis. M...
متن کاملTaqMan-based real-time PCR for genotyping common polymorphisms of haptoglobin (HP1 and HP2).
BACKGROUND The haptoglobin gene (HP) has 2 common codominant alleles (HP(1) and HP(2)) that account for 3 phenotypes. HP(2) is generated by a 1.7-kb intragenic duplication of HP(1). METHODS We used the real-time TaqMan PCR system to develop an effective method for HP genotyping that allows us to evaluate the relative number of copies of the HP(2) allele-specific junctional region of the 1.7-k...
متن کاملTaqMan-Based Real-Time PCR for Genotyping Common Polymorphisms of Haptoglobin (HP and HP)
METHODS: We used the real-time TaqMan PCR system to develop an effective method for HP genotyping that allows us to evaluate the relative number of copies of the HP allele–specific junctional region of the 1.7-kb gene duplication (HP2) by comparing the intensity of the amplification signals to those of the HP promoter region (HP5 ), which was used as the internal control. The difference in thre...
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ژورنال
عنوان ژورنال: Genetics and Molecular Biology
سال: 2012
ISSN: 1415-4757
DOI: 10.1590/s1415-47572012000600010