常染色体隐性遗传

结果28例中5例有家族史，呈常染色体隐性遗传（ARJP）；

Results Among the 28 cases , 5 patients from 3 families had familial history and presented autosomal recessive inheritance ( AR-JP ) .

据报道很少一部分为常染色体隐性遗传型。

Rare autosomal recessive inheritance has also been described .

中国人常染色体隐性遗传性多巴反应性肌张力障碍TH基因突变分析

TH gene mutation in Chinese patients with autosomal recessive dopa-responsive dystonia

6例家族性PD患者中，发现1例有第5外显子缺失，其遗传模式呈常染色体隐性遗传，起病年龄60岁；

In the 6 familial PD patients , 1 had exon 5 deletion .

分离分析结果显示，U×U多发家庭组和U×A家庭组可以接受常染色体隐性遗传的假设；

The results of segregation analysis indicate that the genetic pattern of UU multiplex families and UA group is autosomal recessive .

常染色体隐性遗传的类Duchenne肌营养不良临床特征及其发生比率的估计值分析

The Proportion and Clinical Feature of Duchenne Muscular Dystrophy With Autosomal Recessive Inheritance

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 .

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。

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

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 .

多种羧化酶缺陷症（MCD）是一种常染色体隐性遗传的先天遗传代谢性疾病。

Multiple carboxylase deficiency ( MCD ) is an autosomal recessive disorder of inherited metabolic diseases .

常染色体隐性遗传早发型帕金森病家系的DJ-1基因研究

A study of DJ-1 gene in 3 pedigrees with autosomal recessive early-onset Parkinson 's disease

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 .

在这10例患者中，根据α3和α5链在肾组织中异常分布的特点，对其遗传方式进行分析发现其中7例为X连锁显性遗传，3例为常染色体隐性遗传。

Based on the immunohistochemistry features of type ⅳ collagen chains in glomerular base membrane , 7 of the 10 patients were diagnosed as X linked dominant inherited Alport syndrome , and 3 as autosomal recessive inherited Alport syndrome .

目的探讨常染色体隐性遗传性青少年型帕金森病（AR-JP）的临床特征。

Objective To explore the clinical features of autosomal recessive juvenile Parkinson disease ( AR-JP ) .

常染色体隐性遗传的Hallopeau-Siemens型营养不良型大疱性表皮松解症1例

Hallopeau-Siemens type of recessive dystrophic epidermolysis bullosa : a case report

一致的观念认为常染色体隐性遗传性青少年型帕金森综合症（AR-JP）是parkin基因突变引起的一种单基因遗传病。

There is an agreement that autosomal recessive juvenile parkinsonism ( AR-JP ) is a monogenic disease caused by mutation in parkin gene .

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 .

常染色体隐性遗传Alport综合征一家系COL4A3及COL4A4基因突变分析

Screening for the mutations of COL4A3 / COL4A4 genes in an autosomal recessive Alport syndrome family

肝豆状核变性病（Wilsondisease，WD）是由于P型ATP7B酶缺陷引起的常染色体隐性遗传性疾病，分子生物学方法有助于鉴别WD患者家系中症状前患者和杂合子。

As the Wilson disease ( WD ) is an autosomal recessive disorder caused by the deficiency of the P-type ATPase ( ATP7B ) . So molecular biological assay is helpful for differential diagnosis of pre-symptomatic WD patients and carriers .

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 .

分子遗传学研究证明parkin基因是常染色体隐性遗传性少年型帕金森综合征（ARJP）的致病基因，其表达产物parkin蛋白具有E3泛素蛋白连接酶活性。

It has been identified that parkin gene is the causative gene of autosomal recessive juvenile parkinsionism ( AR-JP ) . The parkin gene product , parkin protein , has ubiquitin-protein ligase ( E3 ) activity .

瓜氨酸血症（Citrullinemia）是荷斯坦牛尿素循环发生代谢紊乱的一种常染色体隐性遗传缺陷。

Citrullinemia is an autosomal recessive inherited defect resulted in the urea cycle disorder in Holstein Dairy cattle .

眼皮肤白化病Ⅱ型（OCA2）是白化病中最常见的类型，呈常染色体隐性遗传。

Oculocutaneous albinism type ⅱ( OCA2 ), the most common type of albinism , is an autosomal recessive disorder .

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症。

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

父母中任意一方的PAX-6基因副本发生突变都有可能以常染色体隐性遗传的方式使子女患上无虹膜畸形病，甚至还会造成子女的认知障碍。

Parents who each have a mutated copy of the PAX-6 gene may be at risk for having a child with Gillespie syndrome ( autosomal recessive aniridia ) and related cognitive disabilities .

对于高度近视则认为是常染色体隐性遗传引起的。

Consider as what recessive heredity causes euchromosome to high myopia .

高分辨率声呐部面仪高分辨超声在常染色体隐性遗传性多囊肾诊断中的价值

High-resolution Ultrasonography in the Assessment of Autosomal Recessive Polycystic Kidney Disease

常染色体隐性遗传性多囊肾病：临床、病理与影像学表现

Autosomal recessive polycystic kidnay disease : clinical , pathological and radiological correlations

三个常染色体隐性遗传性青少年型帕金森综合征家系的基因型与表型分析

Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism