There are no records of a human having been intentionally kept awake long enough to kill them, but a hereditary disease called fatal familial insomnia suggests there is an ultimate limit.
没有关于一个人类被迫保持不睡的时间久到死亡的记录，但是有一种叫做致命性家族失眠症的遗传病似乎表明人类无睡眠时间是有极限的。
However, he said, understanding the molecular nature of this single genetic defect, which is at the root of a familial form of such a complex disease, offers invaluable clues.
然而，他又说，理解单个遗传缺陷的分子本质，其是如此复杂疾病的一种家族性形式的根源，提供了无价的线索。
Mutations in the DLST gene may be responsible for the familial Alzheimer disease (1).
该基因的突变会导致家族性的阿尔茨海默病(1)。
Familial hypertrophic cardiomyopathy (FHCM) is a genetically heterogeneous cardiac disease transmitted as an autosomal dominant trait. It is the leading cause of sudden cardiac death (SCD) in youth.
家族性肥厚型心肌病是一种以常染色体显性遗传为特征的具有遗传异质性的心脏疾病，它是年轻人心源性猝死的首要病因。
Objective To explore the effect of mutation of presenilin 1 (PS 1) gene on the pathogenesis of familial Alzheimer disease (FAD).
目的探讨早老素1基因突变在家族性阿尔茨海默病（FAD）发病中的作用。
Cross's disease, familial amyloidosis, prevents the liver from breaking down a protein called transthyretin.
克罗斯患有一种其家族特有的淀粉样变性疾病，它使肝脏无法分解一种叫做转体基因的蛋白。
Congenital long QT syndrome is a group of familial inherited disease.
先天性Q- T间期延长综合征是一组家族遗传性疾病。
Amyotrophic lateral sclerosis is a fatal neurodegenerative disease that is familial in 10% of cases.
肌萎缩性侧束硬化症是一种致命的神经退化性疾病，其家族遗传率是10%。
Congenital fibrosis syndrome is a rare familial hereditary disease, characterized by fibrotic change of extraocular muscles.
先天性纤维化症候群是一少见的家族性遗传疾病。
If a disease has a genetic basis, it will occur in familial aggregates.
如果一种疾病有遗传基础，它将以家族聚集性的方式发生。
Objective To understand well this disease, 8 children with familial periodic paralysis (FPP) were reported and the (rela) -ted literatures were reviewed.
目的报告8例儿童家族性周期性麻痹(FPP)病例，复习相关文献，以提高对其认识。
The familial hypercholesterolemia could increase the risk of premature coronary heart disease.
家族性高胆固醇血症可以增加早发冠心病的危险性。
Hypertrophic cardiomyopathy is not related to ischemic heart disease but 50% of cases are familial and may be related to genetic mutations in genes encoding for cardiac contractile elements.
肥厚性心肌病与缺血性心脏病无关，但是50%的病例具有家族性并且与基因突变有关。突变基因一般为心脏收缩过程先关基因。
This disease has familial transmissibility more, it is the pathology base with rectum main cancer.
该病多有家族遗传性，是直肠癌重要的病理基础。
There is still no effective cure for multiple familial trichoepithelioma because mechanism of the disease is still unknown.
由于还不清楚多发性毛发上皮瘤的发病机制，因此目前多发性毛发上皮瘤还没有有效的治疗方法。
The disease has a familial hereditary tendency, genetic research shows a non-singleness genetic character, and the manifestations of its pathogenic gene and mutation site are various.
本病有家族遗传倾向，遗传学研究呈非单一性遗传特点，其致病基因及突变位点表现多样。
Conclusion Mutation of RET proto oncogene might play an role in the familial Hirschsprung's disease.
结论RET基因突变与家族性先天性巨结肠症的发生有关。
Wrong tooth adds up to deformation is polygene hereditary disease, often behave familial and genetic tendency.
错牙合畸形是多基因遗传病，常表现家族遗传倾向。
Familial Mediterranean fever, an inherited disease among people of Mediterranean ancestry, is characterized by repeated attacks of fever and inflammation, commonly in the abdomen or lungs.
家族性地中海热，是一种在有地中海的祖先的家族中传播的遗传病，临床表现为反复发作的发热和炎症，通常发生在腹部和肺部。
The early age of onset suggests a virulent disease pattern in the familial patients.
疾病早发性证明在遗传性的患者中该病是致命性的。
Mutations in the presenilin genes are the main cause of familial Alzheimer's disease.
早老蛋白基因的突变是家族性阿尔茨海默病的主要病因。
Objective To explore the disease-associated gene mutations in early onset familial type 2 diabetes containing subjects with MODY2(GCK).
目的早发2型糖尿病家系中可能存在MODY2基因（GCK）的致病突变，了解MODY2基因在早发家族性2型糖尿病发病中作用。
It might be a polygenic disease which is regulated by multiple genes; gene chip technique has limitation in detecting the disease-causing gene of familial with congenital oligodontia.
基因芯片技术在筛查牙齿先天缺失家系的致病基因方面仍有一定的局限性。
It might be a polygenic disease which is regulated by multiple genes; gene chip technique has limitation in detecting the disease-causing gene of familial with congenital oligodontia.
基因芯片技术在筛查牙齿先天缺失家系的致病基因方面仍有一定的局限性。
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