Spinal Muscular Atrophy: Advanced Version of Screening System with Real-Time mCOP-PCR and PCR-RFLP for SMN1 Deletion.

CONCLUSION: In the advanced version of our screening system for homozygous SMN1 deletion using DBS, the real-time mCOP-PCR with newly-designed reverse primers demonstrated the presence or absence of SMN1 and SMN2 within a shorter time, and the results were easily tested by PCR-RFLP. This rapid and accurate screening system will be useful for detection of newborn infants with SMA.
PMID: 31956256 [PubMed - in process]

Source: Kobe J Med Sci - July 15, 2019 Category: General Medicine Authors: Niba ETE, Rochmah MA, Harahap NIF, Awano H, Morioka I, Iijima K, Takeshima Y, Saito T, Saito K, Takeuchi A, Lai PS, Bouike Y, Matsuo M, Nishio H, Shinohara M Tags: Kobe J Med Sci Source Type: research