成人脑型肾上腺脑白质营养不良的临床及遗传学特征

刘桃桃, 刘晓黎, 邬静莹, 倪瑞隆, 张梦圆, 季杜欣, 张梅, 曹立

Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy

LIU Taotao, LIU Xiaoli, WU Jingying, NI Ruilong, ZHANG Mengyuan, JI Duxin, ZHANG Mei, CAO Li

图3 患者家系图及Sanger测序图 Note： A. Pedigree of patient P4. B. The proband P4 was Hemizygous for c.1750delC, and his mother was Heterozygous at this site (red arrow). C. Pedigree of patient P6. D. The proband P6 was Hemizygous for c.160_170delACGCAGGAGGC, and his elder sister was Heterozygous at this site (red arrow). The rest of the family refused to have blood drawn, so the genetic results were not verified.

Fig 3 Pedigree and Sanger sequencing of ACALD patients