查询词典 genetic disease

In humans, genetic defects of CathA cause galactosialidosis, a metabolic disease characterized by combined deficiency of CathA, GAL, and Neu1 and a lysosomal storage of sialylated glycoconjugates.

在人类，CathA的遗传缺失可引起半乳糖唾液酸沉积症，一种以CathA、 GAL、 Neu1不足和唾液酸化糖结合物在溶酶体的沉为特征的代谢疾病。

Hepatolenticular degeneration, or Wilson's disease, is a genetic disorder of copper metabolism.

肝豆状核变性是一种铜代谢异常的遗传性疾病，肝移植是治疗Wilson's病的良好方法。

Like many other Icelanders, neurologist Kari Stefansson can trace his lineage back to a single Viking, and that got him thinking about the genetic roots of disease.

和许多别的冰岛人一样，神经病学家 Kari Stefansson 能将他的家族回溯到一位北欧海盗那里。这让他对疾病的基因根源进行思考。

Majority of acute leukemias in infant, either acute lymphoblastic leukemia or acute myeloblastic leukemia, posses a chromosomal translocation affecting the 11q23 chromosome region which specifically inoles the mixed-lineage leukemia gene.1-3 Most pediatric leukemias with MLL rearrangement clearly hae a remarkably short latency.1,4 MLL gene rearrangement is also associated with secondary leukemias of patients preiously treated with the topoisomerase II inhibitors.4 The latency of these secondary leukemias is similarly ery short.4 Of note, the concordance rate of leukemia with MLL rearrangement in infant monozygotic twins approximates to 100%,1,4 and identical breakpoint in the MLL gene was shared in these pairs of identical twin infants with concordant ALL.1,4 Moreoer, the unique and clonotypic MLL fusion gene was detectable in neonatal blood spots for Guthrie cards from non-twined indiiduals who subsequently deeloped ALL.1,4 These obserations indicate not only that MLL fusion is generated in utero but also that MLL fusion proteins could be capable of inducing leukemic transformation with few, if any, secondary mutations.2,3,4 Greaes et al speculate that an MLL fusion protein somehow promotes rapid transition to full-blown disease in patients ia ery rapid clonal expansion, genetic instability, or inhibition of DNA damage repair.4 In general, for clonal expansion of malignancies, tumor cells often hae acquired strategies that escape immune sureillance of the hosts.5,6 Immune escape mechanisms also contribute to the failure of graft-ersus-leukemia effect after allogeneic hematopoietic stem cell transplantation.7 Therefore, leukemia cells could acquire some immune escape mechanisms during leukemogenesis.

绪论 绝大多数的婴儿白血病，不管是急性淋巴性白血病或是急性骨髓性白血病，在染色体11q23部位有染色体易位的情况；这个部位的染色体易位牵连了混合谱系白血病基因。大多数具有MLL基因重排的儿童白血病潜伏期明显短很多。MLL基因重排也和经拓扑异构酶II抑制剂治疗后的继发性白血病有关。这些继发性白血病的潜伏期类似地都非常的短。很重要的是，单卵双胞胎婴儿同时患有或同时免于MLL基因重排阳性的白血病的一致性接近100%；并且同样患有ALL的同卵双胞胎的MLL基因的断裂点是一致的。而且，这种独特的克隆特异性的MLL融合基因能够从那些得ALL的非双生个体出生时的血斑标本中检测到。这些发现表明MLL融合基因产生在胎儿还在子宫的是后，而且MLL融合蛋白能过和其他的基因突变一起诱导白血病的产生。Greaes 等推测MLL融合蛋白在某种情况下同过快速克隆增殖，遗传的不稳定性或是DNA损伤修复的抑制促使疾病迅速地全面爆发。恶性肿瘤细胞的克隆增殖通常已经获得了逃避机体免疫监视的能力。免疫逃避机制也归因于异体外周血干细胞移植后移植物抗白血病作用的失效。所以，白血病细胞在白血病的产生过程中可能获得了某些免疫逃脱机制。

Objective: To investigate the clinical manifestations and to make genetic analysis in a pedigree with myotonic dystrophy disease.

目的：探讨浙江台州地区一个强直性肌营养不良(myotonic dystrophy， DM)汉族家系的临床表现和分子遗传学基础。

Although the genetic flaw that causes myotonic dystrophy was discovered in 1992, researchers studied the defect for many years before they had a clear understanding of the molecular events that ultimately produce the symptoms of the disease.

尽管引起强直性肌营养不良的基因缺陷在1992年就被发现，研究者在研究该缺陷多年后才清楚理解导致该病症状的分子机制。

Since that time, thanks to the power of genetic analysis, more than 200 genes that cause neuromuscular disease are now known.

从那时起，感谢遗传分析的力量，现在超过200种导致神经肌肉疾病的基因被识别。

As it known, mistakes in spatiotemporal expression of critical genes result in congenital cardiovascular diseases. Furthermore, studies on high risk population of cardiovascular disease have also suggested the relationship between noncongenital cardiovascular diseases and genetic factors.

在心血管系统疾病的研究中已发现，有些是由于某些基因在时空上的表达紊乱所引起，而对部分心血管系统病症高发人群的研究也证明部分后天形成的心脏病与遗传因素有关。

As it known, mistakes in spatiotemporal expression of critical genes result in congenital cardiovascular diseases. Furthermore, studies on high risk population of cardiovascular disease have also suggested the relationship between noncongenital cardiovascular diseases and genetic factors.

在心血管系统疾病的研究中已发现，某些基因在时空上的表达紊乱可导致先天性心脏病，而对部分心血管系统病症高发人群的研究也证明部分后天形成的心脏病与遗传因素有关。

It is usually a nonprogressive disease and can be caused by viral infections, drugs, vitamin A deficiency, or genetic defects.

该疾病通常是非渐进性的，能由病毒感染，药物，维生素A缺乏或遗传缺陷所引起。

Do you know, i need you to come back

你知道吗，我需要你回来

Yang yinshu、Wang xiangsheng、Li decang,The first discovery of haemaphysalis conicinna.

1〕 杨银书，王祥生，李德昌。安徽省首次发现嗜群血蜱。