遗传性

Objective To investigate the circumstances of gene deletion of Chinese patients with Duchnne's type muscular dys-trophy（DMD and Becher muscular dystrophy.

Duchenne和Becker型肌营养不良症是我国最常见的与X染色体连锁的隐性遗传性疾病，发病率约1/3300活男婴［1］。该病系肌营养不良蛋白基因突变所致［2，8］。

Mutant HCN4 channels hae been found to be associated with inherited sinus bradycardia.

过程中起重要的作用，已发现突变的HCN4 通道同遗传性窦性心动过缓相关。

Congenital Preauricular Fistula (MIM 128700) is a common auricular abnormality, the incidence of which is around 1%. The formation of CPF is closely associated with embryological development of the auricle, which is developed from the first and second branchial arches.

先天性耳前瘘管（MIM 128700）是耳鼻咽喉科常见的遗传性疾病，其患病率接近1％，一般认为是胚胎期形成耳廓的第一、第二腮弓的六个小丘样结节融合不良或第一腮沟封闭不全所致。

Congenital Preauricular Fistula (MIM 128700) is a common auricularabnormality, the incidence of which is around 1%. The formation of CPFis closely associated with embryological development of the auricle,which is developed from the first and second branchial arches.

先天性耳前瘘管(MIM 128700)是耳鼻咽喉科常见的遗传性疾病，其患病率接近 1%，一般认为是胚胎期形成耳廓的第一、第二腮弓的六个小丘样结节融合不良或第一腮沟封闭不全所致。

In recent years, the gene was also linked to Aicardi-Goutieres syndrome, a rare neurological disease that causes death in infants, and to chilblain lupus, an inherited disease associated with painful bluish-red skin lesions that occur during cold weather and usually improe in summer. The current research also links it to Sjogren's syndrome, a form of lupus.

在近几年，还发现这个基因与一种在婴儿期就致死的罕见的神经疾病Aicardi-Goutieres综合征有关；也与冻疮样狼疮有关，该病是一种遗传性疾病，表现为在寒冷天气发生的痛性皮肤蓝红斑，通常在夏天会缓解；研究显示该基因也与干燥综合征有关，它是狼疮的分型之一。

All cases were verified by the DNA of chorion amnionic fluid and neonatal cord blood.

PCR扩增技术，检测游离在孕妇血浆内的无细胞胎儿DNA，能在孕期鉴别胎儿性别，尤其是对早期某些选择性遗传性疾病的非创伤性产前诊断意义重大。

About 30% of inherited genetic disorders in humans result from premature termination codon mutations.

前言 约30%的人类遗传性疾病起源于过早出现的终止密码子突变。

Introduction :About 30% of inherited genetic disorders in humans result from premature termination codon mutations.

前言：约30%的人类遗传性疾病起源于过早出现的终止密码子突变。

They had,however,been neglectedclinically,and as a consequence,they had not beenproperly treated with subtotal colectomy but onlypartial colectomy.

结果：此家系中3例大肠癌具备HNPCC大肠癌的临床病理特点，但在临床实践中被忽视，没有考虑遗传性大肠癌的存在。

We guarantee puppy to be free of congenital defects for one year.

我们提供一年内的遗传性疾病保证。

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％。