From: Rapid detection of PAH gene mutations in Chinese people
Detection site | Normal probe sequence (5′-3′) | Mutation probe sequence (5′-3′) |
---|---|---|
R111X (C → T) | GAGCTTTCACGAGATAAGAA | ATGAGCTTTCATGAGATAAG |
R176X (C → T) | CATCCCTCGAGTGGAA | GCCCATCCCTTGAGTG |
Ex6–96 (A → G) | TGTACTCATAGCAAGCAT | ATTGTACTCACAGCAAGC |
R241C (C → T) | TGGTTTCCGCCTCCG | GGTTTCTGCCTCCGAC |
R243Q (G → A) | CACAGGTCGGAGGCG | ACAGGTTGGAGGCGGA |
R252Q (G → A) | GAAATCCCGAGAGGAAAG | AAGAAATCCTGAGAGGAAAG |
Y356X (C → A) | CCTACAGTACTGCTTATCA | GCCTACAGTAATGCTTATCA |
V399 V (A → T) | CACCTCACCTTACTTTCTC | ACCTCACCTAACTTTCTCC |
R413P (G → C) | TCAGTTCGCTACGACC | CTTCTCAGTTCCCTACGA |