Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number
نویسندگان
چکیده
منابع مشابه
Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy.
Previous reports have established that the telomeric copy of the survival motor neuron (SMNT) gene and the intact copy of the neuronal apoptosis inhibitory protein (NAIP) gene are preferentially deleted in patients with spinal muscular atrophy (SMA). Although deletions or mutations in the SMNT gene are most highly correlated with SMA, it is not clear to what extent NAIP or other genes influence...
متن کاملGene dosage analysis of proximal spinal muscular atrophy carriers using real-time PCR.
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 کاملProximal spinal muscular atrophy.
It has been known for some time that cases of muscular atrophy can occur in young people which clinically resemble limb girdle muscular dystrophy but which electromyographically and histologically can be shown to be due to damage to the spinal motor neurone. Investigation of the family frequently reveals further cases, and the course and prognosis is often benign and relatively non-progressive ...
متن کاملIdentification and characterization of a spinal muscular atrophy-determining gene
Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive paralysis with muscular atrophy. The gene for SMA has been mapped to chromosome 5q13, where large-scale deletions have been reported. We describe here the inverted duplication of a 500 kb element in normal chromosomes and narrow the critical r...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 1997
ISSN: 0002-9297
DOI: 10.1086/515465