autosomal dominant的例句大全

Objective To map the virulence gene for a family with coronary autosomal dominant congenital cataracts ( ADCC ).

目的初步定位具有花冠状表型的常染色体显性遗传性先天性白内障一家系的致病基因.

Objective: To elucidate the molecular mechanism of neurofibromatosis type 2 ( NF2) with autosomal dominant inheritance disease in a Chinese kindred.

目的：探讨中国人常染色体显性遗传2型神经纤维瘤病的基因突变和分子诊断。

Owing to the influence of various complex factors, it is possible for the heterozygote of autosomal dominant inheritance to appear in different phenotypes.

由于各种复杂因素的影响，常染色体显性遗传的杂合子有可能出现不同的表现型，本文阐述了常染色体显性遗传的几种类型。

70 patients ( 63.6%) had positive family history and they showed mostly autosomal dominant inheritance. The rate of consanguinity was 6.9%.

有家族史者70例（63.6%），其中常染色体显性遗传17个家系，近亲结婚者5个家系（6.9%）。

The hereditary APC-R family was identified, and it appeared to manifest autosomal dominant inheritance. 3.

确定为遗传性APC-R家系，符合常染色体显性遗传规律。

Conclusions GEFS~+ is autosomal dominant inheritance disease with conspicuous genetic heterogeneity and phenotypic heterogeneity.

结论GEFS+为常染色体显性遗传性疾病，具有显著遗传异质性和表型异质性。

Autosomal dominant cutis laxa with severe lung disease: Synthesis and matrix deposition of mutant tropoelastin

常染色体显性遗传性皮肤松弛症伴重度肺部疾病：弹性蛋白原突变体的合成和基质沉积

Analysis of Full-Field Photopic Electroretinograms in Patients with Autosomal Dominant Congenital Stationary Night Blindness

显性遗传先天性静止性夜盲全视野明视ERG的分析

Objective: To detect gene mutations associated with autosomal dominant congenital stationary night blindness ( ADCSNB) in a large Chinese family.

目的：检测中国一常染色体显性先天性静止性夜盲（ADCSNB）大家系相关基因的致病性突变位点及此病临床表型特征。

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

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。

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.

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。

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.

范德伍兹综合征（Van der Woude syndrome，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）。

The transmission accords with autosomal dominant inheritance.

符合常染色体显性遗传。

Background and objective Benign familial neonatal convulsions ( BFNC) is a rare autosomal dominant inherited epileptic syndrome, characterized by unprovoked convulsions.

背景和目的良性家族性新生儿惊厥（Benign Familial Neonatal Convulsions，BFNC）是一种罕见的原发性癫痫综合征，呈常染色体显性遗传，患病率约为1／10万。

Aim: To study the clinicopathologic manifestation of a pedigree of autosomal dominant benign congenital muscular dystrophy ( BCMD).

目的：对一良性先天性肌营养不良家系进行临床分析及肌活检组织学观察。

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.

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。

Conclusion: The mode of inheritance of SEDC may be autosomal dominant inheritance.

结论：SEDC遗传方式为常染色体显性遗传。

Inherited style of primary hypertension was not autosomal dominant inheritance are autosomal recessive inheritance.

不属于常染色体显性或隐性遗传方式。

The results of genetic analysis in this disease group suggest that hemochromatosis is an autosomal dominant inheritance but not autosomal recessive inheritance disease.

本组病例遗传方式分析结果，不支持常染色体隐性遗传，确定为常染色体显性遗传。

Neurofibromatosis is an autosomal dominant genetic disease, which also named as Von Recklinghausen disease before.

神经纤维瘤病, 以前又称vonRecknn沙ausen病,属常染色体显性遗传病.