Gene diagnosis for spinal muscular atrophy and its application study / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 306-309, 2009.
Article
in Zh
| WPRIM
| ID: wpr-287402
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy (SMA).</p><p><b>METHODS</b>Twenty-six patients with SMA were directly tested with PCR-RFLP for exon 7 deletion in the SMN1 gene. Carrier detection was carried out with multi-PCR-DHPLC. Amniotic fluid was taken at the middle stage of gestation from pregnant women who had given birth to affected children.</p><p><b>RESULTS</b>Twenty-five out of 26 patients were diagnosed as having SMN1 gene deletion. Fifty-two of their parents were found to be carriers of exon 7 deletion. Eight of 20 fetuses were diagnosed as having SMN1 gene deletion by PCR-RFLP.</p><p><b>CONCLUSION</b>PCR-RFLP and multi-PCR-DHPLC techniques can provide rapid diagnosis for exon 7 deletion detection and carrier detection. PCR-RFLP may also be adapted for prenatal gene diagnosis of exon 7 deletion in SMN1 gene.</p>
Full text:
1
Database:
WPRIM
Main subject:
Prenatal Diagnosis
/
Polymorphism, Restriction Fragment Length
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Muscular Atrophy, Spinal
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Spinal Muscular Atrophies of Childhood
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Polymerase Chain Reaction
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Exons
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Gene Deletion
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Diagnosis
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SMN Complex Proteins
/
Survival of Motor Neuron 1 Protein
Type of study:
Diagnostic_studies
Limits:
Child
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Female
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Humans
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Male
/
Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Document type:
Article