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

图2 家系成员 TRAPPC2 基因第4~6个外显子的RT-qPCR结果 Note：Ⅱ- 4—the mother′s brother of the proband; Ⅱ-9—the mother of the proband; Ⅱ-10—the father of the proband; Ⅲ-5—the male cousin of the proband; Ⅲ-10—the sister of the proband; Ⅲ-11—the proband; NC—normal male control.

Fig 2 RT-qPCR results of exon 4?6 of TRAPPC2 gene in family members