英汉例句

• Keratoconus is an uncommon autosomal recessive inheritance, characteristic of corneal ectasia, which results in the corneal central anterior bulging, conus formation and high irregular astigmatism.

  圆锥角膜是一种先天性发育异常，是一种以角膜扩张为特征，致角膜中央部向前凸出、变薄呈圆锥并产生高度不规则散光的角膜病变。

• Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.

  遗传性嗜中性白血球减少癥是一种常染色体隐性遗传疾病，该疾病导致成体中性粒细胞无法从骨髓迁移到血液中。

• Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.

  遗传性无纤维蛋白原血癥是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。

• Rare autosomal recessive inheritance has also been described.

  据报道很少一部分为常染色体隐性遗传型。

• There are three kinds of inherited patterns including autosomal dominant, autosomal recessive and X-linked recessive in inherited congenital cataract.

  与遗传有关的先天性白内障有多种遗传方式，其致病基因、 基因突变的位点和引起先天性白内障的表现型相继被发现。

• Spinal muscular atrophy in childhood is one of the most common neuromuscular disorders with an autosomal recessive mode of inheritance.

  儿童型脊髓性肌萎缩癥是常见的遗传性神经肌肉病，为常染色体隐性遗传。

• The recurrence risk for this disease is, of course, 25% because of the autosomal recessive inheritance pattern.

  因为它是常染色体隐性遗传的，所以它在家族中的发病率是25％。

• Objective:To detect the possible relationship between DJ-1 gene and the Chinese 3 pedigrees with autosomal recessive early-onset Parkinson s disease(AREP).

  前言：目的：探讨DJ-1基因与中国人常染色体隐性遗传早发型帕金森病（AR EP）家系的关系。

• Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.

  结果：①ATD是一种少见的常染色体隐性遗传性骨软骨发育不良疾病。

• Results The genetic pattern of IEP is not polygenic but is mainly influenced by autosomal recessive disorders.

  结果IEP不符合多基因遗传，而主要为常染色体隐体遗传。

• At present, three modes of inheritance are identified including maternal uniparental disomy for chromosome 7 and autosomal dominant or autosomal recessive inheritance.

  目前研究发现此病有三种遗传方式：即母源第7号染色体单亲双体、常染色体显性遗传及常染色体隐性遗传。

• Infantile polycystic kidney disease and autosomal recessive polycystic kidney disease, is the two kind of polycystic kidney in a kind.

  婴儿型多囊肾又叫常染色体隐性遗传型多囊肾，是两种多囊肾中的一种。

• Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.

  目的探讨纯合子定位法在罕见常染色体隐性遗传病致病基因精确定位中的作用。

• Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.

  AT M基因突变可导致共济失调毛细血管扩张癥(AT)，一种常染色体隐性遗传病，该病特点是不协调的肌肉运动和神经退化。

• 68% including 16 cases of autosomal recessive polycystic kidney disease ARPKD 34.

  包括常染色体隐性遗传多囊肾病ARPKD 16例34。

• Progressive familial intrahepatic choleatasia(PFIC)is an autosomal recessive inherited children liver cholestasis characterized by severe jaundice and pruritus.

  进行性家族性肝内胆汁淤积（PFIC）是一组常染色体隐性遗传肝细胞源性儿童胆汁淤积癥。

• A disorder of lipid metabolism that is inherited as an autosomal recessive trait.

  油脂新陈代谢混乱的一种遗传病癥。

• Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism.

  枫糖尿癥是支链氨基酸代谢异常的体染色体隐性遗传疾病。

• Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .

  丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重亚型。

• Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.

  脂质沉积性肌病是一种肌细胞内脂肪异常沉积引起的常染色体隐性遗传病。

• Bovine leukocyte adhesion deficiency (BLAD) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.

  牛白细胞粘附缺陷病(BLAD)是一种常染色体单基因隐性遗传疾病，病因为白细胞表面整合素cd 18亚单位基因突变所致。

• We report an infant delivered at 31 weeks gestation with restrictive dermopathy, which is a rare autosomal recessive genodermatosis.

  我们报告一拘束性皮肤病变的31周出生婴儿，其为一罕见的，体隐性遗传皮肤病。