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- W2392955175 abstract "Objective To provide reliable methods for the gene diagnosis of spinal muscular atrophy(SMA) patients.Methods Exon 7 and 8 of SMN gene were tested by PCR-RFLP and PCR-SSCP in 30 patients who were clinically diagnosed as SMA and in their parents. 50 normal children were tested as control.Results In PCR-RFLP,Two segments (188 bp,164 bp ) in normal children and one segment (164 bp) in SMA patients when exon 7 was detected; And two segments (188 bp,125 bp) in normal children and one segment (125 bp) who were found when exon 8 was detected.In PCR-SSCP the bands denoted SMN1 exon7 and exon8 missed in SMA patients. SMN1 gene exon7 and 8 are both missed in 22 of 30 patients, only exon 7 missed in 4 patients. No missing of exon7 and/or exon8 was found in the left 4 patients.Nobody was showed exon8 missing only. 16 SMAⅠ patients(94.1%) and 10 SMAⅡpatients(100%) were found SMN1 gene missing. Abnormal bands were found in two of the three SMAⅢ patients who did not lose SMN1 gene exon 7or 8 . One SMA patient's father missed SMN1 gene exon 7or 8 homozygously. No one lost SMN1 gene exon 7or 8 in 50 normal children, but one child missed SMN2 gene exon7 and 8. We found that PCR-RFLP and PCR-SSCP had the same results in testing deletion of SMN1 exon7 and exon 8. And in two SMA patients without deletion of SMN1 gene exon 7or 8 by PCR-RFLP,we found abnormal bands in their parents by PCR-SSCP.Conclusions The test of missing of SMN1 exon 7 and 8 is maybe helpful to early diagnosis, prenatal diagnosis, differentiate diagnosis and exact diagnosis.Both PCR-RFLP and PCR-SSCP are useful assistant ways in diagnosis of SMA more exactly. Gene diagnosis of SMA by testing absence of SMN E7 and E8 is convenient,and can be accepted by the parents." @default.
- W2392955175 created "2016-06-24" @default.
- W2392955175 creator A5047951366 @default.
- W2392955175 date "2007-01-01" @default.
- W2392955175 modified "2023-09-24" @default.
- W2392955175 title "Diagnosis of SMA by PCR-SSCP and PCR followed by restriction enzyme digestion" @default.
- W2392955175 hasPublicationYear "2007" @default.
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