AI Article Synopsis
- The study aimed to create a reliable testing system for diagnosing spinal muscular atrophy (SMA) through gene detection, carrier detection, and prenatal screening.
- Twenty-six SMA patients were tested for a specific deletion in the SMN1 gene using PCR-RFLP, while parents were screened for being carriers with multi-PCR-DHPLC.
- Results showed that 25 patients had the gene deletion, 52 parents were carriers, and 8 out of 20 fetuses were diagnosed with the deletion, indicating that the testing methods are effective for rapid diagnosis and could be used for prenatal screening.
Article Abstract
Objective: To establish an effective testing system for gene diagnosis, carrier detection and prenatal diagnosis for spinal muscular atrophy (SMA).
Methods: 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.
Results: 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.
Conclusion: 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.
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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2009.03.015 | DOI Listing |
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