中文摘要：

背景家庭血胆脂醇过多(FH ) ，由低密度引起了脂蛋白(LDL ) 受体(LDL-R ) 基因变化，与早熟的冠的心疾病的增加的风险被联系。直到现在，有关 FH 的有限分子的数据在中国是可得到的。现在的学习描述了临床的侧面和房间有新奇 LDL-R 基因 mutation.Methods 的一个中国 FH 家族的生物缺点病人编码区域的 LDL-R 基因被定序。病人的淋巴细胞被孤立， LDL-R 表达式，绑定和举起函数被 immunohistochemistry 染色和流动 cytometry 察觉观察。病人的心和主要大容器被容器超声检查和病人的 LDL-R 表示， LDL 绑定和举起功能是的心肌的灌注成像(MPI ).Results 检测比正常控制显著地低(39% ， 63% 和 76% 分别地) 。一篇小说同型结合 LDL-R 基因的 1439 CT 变化在病人和他的家庭被检测。ECG 显示出不正常的心绞痛。Echocardiogram 显示出冠的动脉的狭窄和大动脉的阀门和它的根的石灰化。血容器超声检查显示出大容器 intima 的厚度，并且容器腔被 71% 缩小。MPI 显示出的 ischemic changes.Conclusions FH 病人的 LDL-R 合成机能障碍导致动脉的狭窄和石灰化，它是临床的混乱的主要显型。LDL-R 基因的变化是坚定的。这些数据增加在中国的 FH 的 mutational 光谱。

英文摘要：

Background Familial hypercholesterolemia （FH）, caused by low density lipoprotein （LDL） receptor （LDL-R） gene mutations, is associated with increased risk of premature coronary heart disease. Until now, limited molecular data concerning FH are available in China. The present study described the clinical profiles and cell biological defects of a Chinese FH kindred with novel LDL-R gene mutation. Methods The patient＇s LDL-R gene coding region was sequenced. The patient＇s lymphocytes were isolated and the LDL-R expression, binding and up-take functions were observed by immunohistochemistry staining and flow cytometry detection. The patient＇s heart and the major large vessels were detected by vessel ultrasound examination and myocardial perfusion imaging （MPI）. Results The patient＇s LDL-R expression, LDL binding and up-take functions were significantly lower than normal control （39%, 63% and 76% respectively）. A novel homozygous 1439 C→T mutation of the LDL-R gene was detected in the patient and his family. ECG showed atypical angina pectoris. Echocardiogram showed stenosis of the coronary artery and calcification of the aortic valve and its root. Blood vessel ultrasound examination showed the thickness of large vessel intima, and the vessel lumen was narrowed by 71%. MPI showed ischemic changes. Conclusions The LDL-R synthesis dysfunction of FH patients leads to arterial stenosis and calcification, which are the major phenotype of the clinical disorder. The mutation of the LDL-R gene is determined. These data increase the mutational spectrum of FH in China.