遗传性

Generally speaking, most causes the blood disease which the skin hemorrhage, the menstruation increase, through inspections and so on routine blood test, marrow may be clear about the diagnosis basically, but to minority difficult case, then must through the special examination method, like the chromosome inspection, the gene order analysis, the blood platelet accumulation function determination be able to diagnose (my branch to apply the above method to diagnose rare May-Hegglin successively recently exceptionally with heredity telangiectasis sickness pedigree each example).

一般而言，多数导致皮肤出血、月经增多的血液疾病，通过血常规、骨髓等检查可基本明确诊断，但对少数疑难病例，则需通过特殊的检测方法，如染色体检查、基因序列分析、血小板聚集功能测定才能确诊（最近我科应用上述方法先后诊断了罕见的May－Hegglin异常和遗传性毛细血管扩张症家系各一例）。

The heredity telangiectasis sickness, the familial retinitis simplex purpura as well as the allergic purpura, the female easy to send the livedo syndrome are the blood vessel wall exceptionally are the result, often easily causes the hemorrhage symptom.

遗传性毛细血管扩张症、家族性单纯性紫癜以及过敏性紫癜、女性易发青斑综合症均为血管壁异常所致，常易导致出血症状。

Background Slowly activating delayed rectifier potassium currentI_(Ks is important in therepolarization of human cardiomyocyte action potential,especially in forming andmaintaining plateau of action potential. I_ channel is combined byαandβsubunits,which are coded by KCNQ1 and KCNE1 respectively. Mutations ofhKCNQ1/hKCNE1 genes,chronic myocardial hypertrophy and chronic heartfailure will lead to dysfunction of I_ and ingenital or acquired LQTS which areimportant factor in hazardous ventricular arrhythmia such as Torsade depoints.

实验背景缓慢激活延迟整流钾电流I_(Ks是参与人心肌细胞动作电位复极，特别是平台期形成与维持的重要外向离子流。I_通道由KCNQ1基因编码的α亚单位及KCNE1基因编码的β亚单位组成。hKCNQ1/hKCNE1基因突变或慢性心肌肥厚、慢性心力衰竭等病理过程均可导致I_功能异常，引起遗传性或获得性长QT综合征，LQTS易引起尖端扭转型室性心动过速等心律失常，从而危及病人生命。

Mutations in the cationic trypsinogen gene (PRSS1) have been detected in patients with hereditary pancreatitis.

阳离子胰蛋白酶原基因1突变在遗传性胰腺炎患者中被检测出来。

At present, mang hereditary disease and acquired disease are concerned with the functional disorder of UPP.

目前发现的许多遗传性和获得性疾病的发生都与此系统功能失调有关。

Genetically obese mice exhibited increased XOR activity and urate in the adipose tissue.

遗传性肥胖小鼠显示出XOR活性增强和脂肪组织中尿酸盐增加。

These are inherent and apparently permanent and can be propagated vegetatively.

这些具有内在的和明显的遗传性，并可以无性繁殖。

Pre-delivery Diagnosis System: Provide pre-delivery diagnosis services including genetics consultation, ultrasound screening, amniocentesis, venepuncture and karyotype analysis. It aims to detect fetus with genetic and congenital anomaly before delivery so that these babies will not be brought to the world.

、产前诊断系统：开展遗传咨询、超声筛查、羊膜腔穿刺、脐静脉穿刺、染色体核型分析等产前诊断国际化先进技术，对胚胎或胎儿在出生前是否患有遗传性先天畸形做出准确的判断，防止缺陷出生。

"The quality of the data from this well-conducted study and additional analyses will help to inform the clinical development of ataluren in other indications," stated Geoffrey McDonough, MD, senior vice president and general manager of Genetic Diseases at Genzyme.

他说："这个有效地开展研究和分析，将有助于补充通知的其他迹象ataluren临床开发的数据质量，说："杰弗里麦克唐纳博士，高级副总裁和转基因组的遗传性疾病的总经理。

We report the results of molecular screening in 980 patients carried out as part of their work-up for suspected hereditary optic neuropathies.

我们报告了对980例可疑遗传性视神经病变患者进行分子学筛查作为诊断检查的一部分的结果。

Breath, muscle contraction of the buttocks; arch body, as far as possible to hold his head, right leg straight towards the ceiling (peg-leg knee in order to avoid muscle tension).

呼气，收缩臀部肌肉；拱起身体，尽量抬起头来，右腿伸直朝向天花板（膝微屈，以避免肌肉紧张）。

The cost of moving grain food products was unchanged from May, but year over year are up 8%.

粮食产品的运输费用与5月份相比没有变化，但却比去年同期高8％。