常染色体隐性遗传病

Wilson病是一种由铜蓄积引起肝脑损害的常染色体隐性遗传病。

Wilson 's disease ( WD ), an autosomal recessive disorder , is caused by copper accumulation resulted in subsequent damage to liver and brain .

近亲结婚往往是导致常染色体隐性遗传病的重要因素，避免近亲结婚可防止此类疾病的发生。

Consanguineous marriage is often an important factor in autosomal recessive genetic disease , and inbreeding avoided can prevent this kind of disease .

通常认为EV是一种常染色体隐性遗传病，但是也有常染色体显性遗传及x连锁隐形遗传等多种遗传方式的报道，揭示了其遗传异质性。

It is universally recognized that the mode of EV transmission may likely be autosomal recessive , but autosomal dominant and X-linked recessive inheritance have also been reported .

结论：LP是一种罕见的常染色体隐性遗传病，中国人群中其致病基因的突变频率很低；

Conclusion : LP is an autosomal recessive disease , and the mutation of pathogenic gene of LP is rare in Chinese people .

WD是神经科较为常见的常染色体隐性遗传病，其唯一致病基因为ATP7B基因。

WD is a common autosomal recessive inherited neuropathy , whose only pathogenic gene is ATP7B .

婴儿神经轴索营养不良（InfantileNeuroaxonalDystrophy，INAD，MIM256600）是一种累及中枢及外周神经系统的进展性的神经系统变性病，为一种罕见的常染色体隐性遗传病。

Background : Infantile neuroaxonal dystrophy ( INAD ) is a rare autosomal recessive neurodegenerative disorder involving axons in both central and peripheral nervous system .

圆锥角膜（Keratoconus）是一种常染色体隐性遗传病，病变以角膜扩张为特征，角膜中央部前凸呈圆锥形，致角膜变形和曲率增大。

Keratoconus is an autosomal recessive inheritant disease , charactered by cornea distension . The center part of cornea extends anteriorly to form a conus , which deforms the cornea .

肝豆状核变性是一种铜代谢障碍的常染色体隐性遗传病。

Wilson ′ s disease is a autosomal recessive inherited disease characteristic by metabolic disorder of copper .

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。

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

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。

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

聋哑是常染色体隐性遗传病，通过遗传分析发现，减少或防止近亲结婚可以降低聋哑人的出生。

It is a recessive hereditary disease of autosome to be deaf and dumb . It was analysed through heredity that reducing or preventing consanguineous marriage can reduce the deaf-mute 's birth rate .

HPS综合症（Hermansky-PudlakSyndrome）是一种位于常染色体上的隐性遗传病，它是由于细胞内蛋白转运或细胞器生成相关基因突变引起的多系统综合病症。

The Hermansky-Pudlak syndrome ( HPS ) is a kind of autosomal genetic disease , a multi-system syndrome caused by mutation in genes that regulate the protein transportation and the biogenesis of lysosome-related organelles .