X连锁迟发性脊椎骨骺发育不良家系TRAPPC2基因缺失突变的高通量测序分析
刘宇, 王环环, 肖冰, 唐利芳

High-throughput sequencing analysis of deletion mutation of TRAPPC2 in an X-linked spondyloepiphyseal dysplasia tarda pedigree
LIU Yu, WANG Huanhuan, XIAO Bing, TANG Lifang
表1 TRAPPC2 基因缺失片段RT-qPCR引物序列
Tab 1 Primer sequences of TRAPPC2 gene deletion fragment
NameSequence (5′→3′)Product length/bpAnnealing temperature/℃
Exon4QForward: CAAACTGTTTTTTCCCCACAAGA27562
Reverse: TAAGAAGGTAAGGATATGCCCCG
Exon5QForward: GGTTGCTTTTTGTTTTTCATTTCTAA32760
Reverse: TTCCTAAATACATATTCACCTGGCTG
Exon6QForward: GATTTGTCAGCTTTTTTGCTTCACTAA9462
Reverse: CACTTGATCGAATAGGAGAATTGGGTT