显性遗传病

遗传性皮肤病和非综合征型神经性耳聋（nonsyndromichearingimpairment，NSHI）是两大类比较重要的常染色体显性遗传病。

Inherited skin disease and nonsyndromic hearing impairment are two important autosomal dominant diseases .

结论：证实EXT为常染色体显性遗传病，本组外显率为97%。

Conclusion : EXT is an autosomal dominant disorder and the penetrance is 97 % in this report .

遗传性血管性水肿是一种由于C1酯酶抑制剂的合成障碍或功能缺陷所致的常染色体显性遗传病。

Hereditary angioedema ( HAE ) is an autosomal dominant genetic disease caused by synthesis defect or dysfunction of C1 esterase inhibitor .

遗传性乳光牙本质（DentinogenesisImperfectatypeⅡ，DGI-Ⅱ）是一种常染色体显性遗传病。

Dentinogenesis imperfecta Shields type II ( DGI-II , MIM 125490 ) is an autosomal dominant disorder in which both primary and permanent teeth are affected .

甲状腺激素抵抗综合征（RTH）是身体各个靶组织对甲状腺激素抵抗的一类综合病症，属于常染色体显性遗传病，主要是由于编码甲状腺激素β受体（TRβ）的基因发生突变引起。

Resistance to thyroid hormone ( RTH ) is a syndrome of reduced responsiveness of target tissues to thyroid hormone ( TH ) .

目的多发性内分泌腺瘤2型（Multipleendocrineneoplasiatype2，MEN2）是一种以甲状腺、肾上腺髓质和甲状旁腺神经内分泌细胞发生增生或瘤变的常染色体显性遗传病。

Multiple endocrine neoplasia type 2 ( MEN2 ) is an autosomal dominant familial disorder characterized by occurrence of tumors or hyperplasias in cells of thyroid , adrenal medullary and hyperparathyroid .

范德伍兹综合征（VanderWoudesyndrome，VWS，OMIM119300）是一种常染色体显性遗传病。其特征是家族性下唇瘘复合唇裂或腭裂，1／4的患者伴有缺牙（Hypodontia）。

Van der Woude syndrome ( VWS , OMIM 119300 ) is an autosomal dominant craniofacial disorder characterized by pits of the lower lip , hypodontia and cleft lip and / or cleft palate .

Peutz-Jeghers综合征（PJS）又称黑斑息肉综合征，是一种以皮肤粘膜黑斑、胃肠道多发息肉及恶性肿瘤发生率增加为特征的常染色体显性遗传病。

Peutz-Jeghers syndrome ( PJS ) is an autosomal dominant disorder characterized by multiple hamartomatous polyps of gastrointestinal tract , muco-cutaneous pigmentation and increased risk of malignancies in different organs .

TBX5基因突变可引起心手综合征，后者是以先天性心脏和上肢畸形为特点的常染色体显性遗传病。

TBX5 mutations could cause Holt-Oram syndrome , an autosomal dominant condition characterized by congenital cardiac malformations and upper limb anomalies .

20例常染色体显性遗传病5年随访结果分析

Twenty cases of euchromosome viewy genetic ill were analyzed in five years

成骨不全病（OMIM166200）是一种常染色体显性遗传病，其临床表现以骨折及结缔组织异常为特征。

Osteogenesis imperfecta ( OMIM 166200 ) is an autosomal dominant disorder characterized by bone fragility and abnormalities of connective tissue .

该病基因定位在12q23.2～24.1。结论：湖南家系汗孔角化症遗传方式为常染色体显性遗传病。

The gene of that disease is located at 12q23 ~ 24.1 . Conclusions : The hereditary pattern of the actinic porokeratosis of " Hunan family " is autosomal dominant disease .

脊髓小脑型共济失调Ⅲ型/马查多-约瑟夫病（SCA3/MJD），是一种以神经细胞变性、细胞核内蛋白聚集体形成为病理特征的常染色体显性遗传病。

Spinocerebellar ataxia type 3 / Machado-Joseph disease ( SCA3 / MJD ) is a kind of autosomal dominant disease , which is characterized by degeneration of neurons and accumulation of aberrant protein aggregates in affected neurons .

结果遗传性胰腺炎是胰腺炎的一种罕见类型，是一种有80%外显率的常染色体显性遗传病，其发病被认为是阳离子胰蛋白酶原基因突变所致，此类患者是胰腺癌的高发人群。

Results Hereditary pancreatitis was a rare type of pancreatitis , with an estimated penetrance of 80 % , and was believed to be caused by a mutation in the cationic trypsinogen gene . Patients with hereditary pancreatitis had a high frequency of pancreatic cancer .

结论Parkin基因外显子3缺失的检出对常染色体显性遗传帕金森病的早期诊断和基因治疗具有指导意义。

Conclusion : The deletion in exon 3 of Parkin gene is useful for the early diagnosis and gene therapy of the disease .

研究背景汗孔角化症是一组常染色体显性遗传皮肤病，它以表皮明显角化、鸡眼样层板结构为其组织病理特征。

Background Porokeratosis is a group of disorders characterized by epidermal keratinization associated with a cornoid lamella , which is an autosomal dominant mode of inheritance .

研究背景遗传性对称性色素异常症（Dyschromatosissymmetricahereditaria，DSH），又称Dohi肢端色素沉着，是一种少见的常染色体显性遗传性皮肤病。

Background Dyschromatosis symmetrica hereditaria ( DSH ), also called reticulate acropigmentation of Dohi , is a rare autosomal dominant pigmentary genodermatosis .

研究背景：家族性慢性良性天疱疮，又称Hailey-Hailey病（HHD，OMIM169600）是一种罕见的常染色体显性遗传性皮肤病。

Background Familial benign chronic pemphigus or Hailey-Hailey disease ( HHD ; OMIM 169600 ) is a rare autosomal dominant cutaneous disorder characterized by recurrent vesicles and erosions mainly in intertriginous areas .

常染色体显性遗传小眼球病与12个微卫星多态标志的初步连锁分析

Preliminary linkage analysis on autosomal dominant microphthalmia with 12 microsatellite markers

对此家系的研究是一项系统性的工作：首先，采用连锁分析和单倍型共享的方法，逐个鉴定，最终排除了以往文献报道过的常染色体显性遗传的帕金森病致病基因。

Firstly , the method of linkage and haplotype sharing is taken to exclude the susceptible disease gene which reported by other paper from the pedigree .

结论偏头痛患者MRI出现脑白质变性可能是偏头痛的一种新的特殊类型或者是伴有皮质下脑梗死或白质脑病的常染色体显性遗传性脑动脉病的早期改变。

Conclusion The cerebral white matter changes in migraine cases on MRI can be a new special type or early stage change of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy ( CADASIL ) .

研究背景先天性厚甲症（PachyonychiacongenitaPC）是一种少见的常染色体显性遗传性皮肽病，为外胚叶发育不良性皮肤病。

Background Pachyonychia congenita ( PC ) is an autosomal dominant disorder that usually develops in early infancy .

目的探讨伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）患者脑血液动力学变化特点。

Objective To investigate the cerebral hemodynamics in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ( CADASIL ) .

Marfan综合征（Marfansyndrome，MFS）是一种常染色体显性遗传性结缔组织病，其病变的微纤维主要牵累3个组织器官系统：骨骼、眼和心血管。

Marfan syndrome , an autosomal dominant heritable disorder of connective tissue disease , is characterized by involvement of three major systems ( skeletal , ocular , and cardiovascular ) due to alteration in microfibrils .

作为卒中、痴呆和偏头痛的病因，伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）越来越受到人们的重视。

As one of the causes of stroke , dementia and migraine , cerebral autosomal dominant with subcortical infarcts and leukoencephalopathy ( CADASIL ) has been paid increasing attention .