title: Molecular prenatal diagnosis of autosomal recessive spinal muscular atrophies using quantification polymerase chain reaction.
abstract: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. SMA is the second most common neuromuscular disorder and a common cause of infant disability and mortality. About 95% of patients have a homozygous deletion of exon7 in the survival motor neuron 1 gene. About 50 fetuses from 47 Chinese couples at risk of having an affected child were recruited in this study. The homozygous absence of exon7 of the survival motor neuron 1 gene was detected by both polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the quantitative PCR method. Short tandem repeat microsatellite markers linked to the survival motor neuron 1 gene were used to do linkage analysis. In conclusion, the quantitative PCR method results were as reliable as the results using the PCR-RFLP method in prenatal diagnosis. The quantitative PCR method can give more information on SMA carrier status that coincides with the result of linkage analysis.
authors: Department of Prenatal Diagnosis Center, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors: Wenting
authors: W
authors: Jiang
authors: Xing
authors: X
authors: Ji
authors: Yan
authors: Y
authors: Xu
authors: Xiaoxing
authors: X
authors: Qu
authors: Wei
authors: W
authors: Sun
authors: Zujing
authors: Z
authors: Yang
authors: Jiong
authors: J
authors: Tao
authors: Yingwei
authors: Y
authors: Chen
mesh_terms: D044466:Asian People / Q000235:genetics; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D006720:Homozygote; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D060888:Real-Time Polymerase Chain Reaction / Q000379:methods*; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics*
chemical_list: D055533:Survival of Motor Neuron 1 Protein