Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 1274-1277, 2005.
Article
in English
| WPRIM
| ID: wpr-320784
ABSTRACT
<p><b>BACKGROUND</b>Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord. The survival motor neuron gene is SMA-determining gene deleted in approximately 95% of SMA patients. This study was undertaken to predict prenatal SMA efficiently and rapidly in families with previously affected child.</p><p><b>METHODS</b>Prenatal diagnosis was made in 8 fetuses with a family history of SMA. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the detection of the survival motor neuron gene.</p><p><b>RESULTS</b>The survival motor neuron gene was not found in 6 fetuses, ruling out the diagnosis of SMA. Two fetuses were detected positive and the pregnancies were terminated.</p><p><b>CONCLUSION</b>Our method is effective and convenient in prenatal diagnosis of SMA.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Spinal Muscular Atrophies of Childhood
/
Polymerase Chain Reaction
/
Exons
/
RNA-Binding Proteins
/
Sequence Analysis, DNA
/
Cyclic AMP Response Element-Binding Protein
/
Cell Biology
/
Diagnosis
/
SMN Complex Proteins
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
English
Journal:
Chinese Medical Journal
Year:
2005
Type:
Article
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