家族性高胆固醇血症研究进展

蒋琬姿, 张丽雯, 贺彩红, 阮梅花, 季勇, 于建荣, 周红文

Progress on familial hypercholesterolemia

Jiang Wanzi, Zhang Liwen, He Caihong, Ruan Meihua, Ji Yong, Yu Jianrong, Zhou Hongwen

附表1 续

Supplementary Table 1 Continued

一般情况 治疗前血脂 临床表现 基因诊断 发表 时间 序号 性别 (女/男) 年龄 (岁) 省/市 TC (mmol/L) LDL-C (mmol/L) 冠心 病 黄色 瘤 角膜 弓 纯合子/ 复合杂合 cDNA 突变 氨基酸突变 c.947A>G p.Asn316Ser c.986G>A p.Cys329Tyr c.1016T>C p.Leu339Pro c.1048C>T p.Arg350* c.1054T>A p.Cys352Ser c.1216C>T p.Arg406Trp c.1246C>T p.Arg416Trp c.1247G>T p.Arg416Leu c.1291G>A p.Ala431Thr c.1322T>C p.Ile441Thr c.1329G>A p.Trp443* c.1384G>A p.Val462Ile c.1432G>A p.Gly478Arg c.1474G>A p.Asp492Asn c.1586+1G>T NA c.1618G>A p.Ala540Thr c.1691A>G p.Asn564Ser c.1747C>T p.His583Tyr c.1765G>A p.Asp589Asn c.1807A>T p.Lys603* c.1783C>T p.Arg595Trp c.1851_1862del p.Val618_Thr621del c.1879G>A p.Ala627Thr c.1897C>T p.Arg633Cys c.1953_1954del p.Met652GlyfsX16 c.2215C>T p.Gln739* c.2389G>A p.Val797Met c.2446A>T p.Lys816* c.510delC p.Asp171Profs*35 c.562delT p.Tyr188Thrfs*18 c.656 661del p.Gly219Asp221del 49 女 25 北京 13 9.8 + + 杂合子 c.1448G>A p.Trp462* 2010[49] 50 女 23 17.66 15.78 + 复合杂合 c.2390-2A>G, c.1687C>T p.Pro563Ser 2010[50] 51 男 10 陕西 17.1 14.0 + + 纯合子 c.1864G>T p.Asp601Tyr 2010[51] 52 女 5 北京 16.8 13.1 + + 杂合子 c.1879G>A p.Ala627Thr 2010[52]