Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
نویسندگان
چکیده
منابع مشابه
Investigation of carrier frequency for spinal muscular atrophy in Thailand using dried blood spot specimens
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder, characterized by the degeneration of motor neurons of the spinal cord, thus leading to the deaths of newborns. More than 95% of SMA patients are caused by the absence of survival motor neuron 1 (SMN1) gene exon 7, located on chromosome 5q13. The SMA disease prevalence and SMA mutations in Thailand have never been reported...
متن کاملSMN1 and NAIP genes deletions in different types of spinal muscular atrophy in Khuzestan province, Iran
Background: Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease. It is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. The SMN1 gene is recognized as a SMA causing gene while NAIP has been characterized as a modifying factor for the clinical ...
متن کاملSMN1 deletions among singaporean patients with spinal muscular atrophy.
INTRODUCTION Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by degeneration of spinal cord anterior horn cells, leading to muscular atrophy. It is the second most frequent autosomal recessive disease among Caucasian populations with a prevalence of between 1 in 6000 and 1 in 10,000 live births, and a carrier frequency of about 1 in 50. The Internati...
متن کاملSpinal Muscular Atrophy: A Short Review Article
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...
متن کاملmolecular analysis of the smn1 and naip genes in patients with spinal muscular atrophy
proximal spinal muscular atrophy (sma) is one of the most common autosomal recessive disorders. sma has an estimated incidence of 1 in 10,000 live births. the clinical picture of sma is quite variable and childhood sma has been classified into 3 types. type i, werdnig-hoffmann disease, is the most acute and severe, with an onset before the age of 6 months and death usually occurring before the ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: International Journal of Neonatal Screening
سال: 2020
ISSN: 2409-515X
DOI: 10.3390/ijns6020043