Studies on the molecular diagnosis and prenatal diagnosis of the spinal muscular atrophy carriers by multiplex ligation-dependent probe / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 38-41, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-349043
ABSTRACT
<p><b>OBJECTIVE</b>To study the application of the multiplex ligation-dependent probe amplification (MLPA) method in genetic and prenatal diagnosis for spinal muscular atrophy (SMA).</p><p><b>METHODS</b>Four patients, 16 parents and 4 fetuses from 8 SMA pedigrees were included. MLPA was performed for molecular analysis, and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used for the mutation detection of the 4 patients.</p><p><b>RESULTS</b>For all the four patients, the same homozygous deletion of the exons 7 and 8 of the survival motor neuron 1 (SMN1) gene, was detected by PCR-RFLP and MLPA. All fourteen parents from the 8 pedigrees were carriers of the SMN1 gene heterozygous deletion, except the mothers in pedigrees 1 and 4 in whom the mutations were different.</p><p><b>CONCLUSION</b>MLPA is a simple and efficient quantitative method for copy number analysis of the SMN genes. It can be used for the genetic diagnosis and prenatal diagnosis of the SMA patients and carriers.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Prenatal Diagnosis
/
Polymorphism, Restriction Fragment Length
/
Muscular Atrophy, Spinal
/
Exons
/
Sequence Deletion
/
Ligase Chain Reaction
/
Diagnosis
/
Amplified Fragment Length Polymorphism Analysis
/
Survival of Motor Neuron 1 Protein
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2010
Type:
Article
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