月沙工具箱
现在位置:月沙工具箱 > 学习工具 > 英语单词大全

autosomal dominant inheritance是什么意思,autosomal dominant inheritance的意思翻译、用法、同义词、例句

输入单词

常用词典

  • 常染色体显性遗传

  • 例句

  • Conclusion FC has obvious heterogeneity, and its mode of inheritance is autosomal dominant inheritance with reduced penetrance.

    结论FC存在明显的遗传异质性,其遗传模式呈常染色体显性遗传伴不完全外显性。

  • An investigation of a genetic Blepharostenosis family was reported. It was proved that the disease was congenital eyelid syndrome and autosomal dominant inheritance.

    报道了一个遗传性小眼症家系的调查结果,该家系属于先天性睑裂狭小综合症,为常染色体显性遗传。

  • Conclusion:The essential hypertension is the human phenotype blemish caused by injured DNA. It is compatible with an autosomal dominant inheritance and its performance is delayed.

    结论原发性高血压是由DNA损伤引起的人类表型缺陷,该病症符合常染色体显性遗传,具延迟外显性。

  • 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。

  • Herediatery nonpopsis colorectal cancer(HNPCC) is an autosomal dominant inheritance syndrome , its penetrance is as high as 70 - 80% , and occupy about 5-15% of the colorectal cancer.

    遗传性非息肉病性大肠癌(HNPCC)主要与遗传因素有关,呈常染色体显性遗传,外显率高达70%-80%。

  • Conclusions(1) HNPCC is of autosomal dominant inheritance (AD).

    结论(1 )该家族呈常染色体显性遗传;

  • 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。

  • The hereditary mode of this family line is a autosomal dominant inheritance, which differs from those which have been reported.

    本家系遗传方式为常染色体显性遗传,和其它学者报告不同。

  • With pedigree analysis, the genetic mode of the disease in the family are autosomal dominant inheritance.

    据系谱分析,该疾病符合常染色体显性遗传方式。

  • Results ①Three DDEB families are in line with autosomal dominant inheritance;

    结果①符合常染色体显性遗传;

  • The ac2+-Mg2+-ATPase activity of EH patients is distinctly defective and controled by genetic factors and transmitted in autosomal dominant inheritance.

    EH患者钙泵活性明显改变,受遗传因素控制,是垂直传递,为常染色体显性遗传。

  • Conclusion The congenital cataract is the human phenotype defect caused by injured DNA. It is compatible with the autosomal dominant inheritance.

    结论先天性白内障是由DNA损伤引起的人类表型缺陷,该病症符合常染色体显性遗传。

  • Pedigree analysis indicated autosomal dominant inheritance.

    呈常染色体显性遗传。

  • The results showed that 24, 51, 19, 14 epileptic families were respectively in the modes of autosomal dominant inheritance, autosomal recessive inheritance, X-sex inheritance, polygenic inheritance.

    共发现24个常染色体显性遗传家系,19个X-连锁显性或隐性遗传家系,51个常染色体隐性遗传家系,另有14个家系为非孟德尔遗传模式。

  • Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant inheritance disease. 25 cases from a family were reported. The pathology, clinical presentation and treatment were discussed.

    遗传出血性毛细血管扩张症为常染色体显性遗传病,临床少见,本文就其病理变化、临床特点进行讨论,探讨其治疗方法。附一家系25例分析。

  • Conclusion:The family investigation suggested that the formation of cup ear was determined by the cup ear gene of an affected parent and it was an autosomal dominant inheritance.

    所查杯状耳均无耳聋病史及其它部位畸形。结论:杯状耳的形成是由父母双方中一方杯状耳基因决定的,家系分析显示为常染色体显性遗传。

  • 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。

  • Result: It's autosomal dominant inheritance in this family.

    结果:该家族为常染色体显性遗传家系。

  • The results indicate that psoriasis is of autosomal dominant inheritance and incomplete phenotype.

    认为银屑病属于常染色体显性遗传,伴不全表现。

  • From all these characteristics autosomal dominant inheritance was unambiguously established.

    上述特征完全符合常染色体显性遗传的特点。

  • We think that the vitiligo in the family history is caused by autosomal dominant inheritance.

    作者认为该家系的白癜风为常染色体显性遗传。

  • The transmission accords with autosomal dominant inheritance.

    符合常染色体显性遗传。

  • Conclusions The autosomal dominant inheritance is often incomplete. The clinical feature is often complicated as the neoplasm in the concerned glands might not develop simultaneously.

    结 论此种常染色体显性遗传病可出现外显不全,所累及腺体并不同时发病使临 床症状复杂。

  • Conclusion :The family investigation suggested that the formation of cup-ear was determined by the cup-ear gene of an affected parent and it was an autosomal dominant inheritance.

    结论 :杯状耳的形成是由父母双方中一方杯状耳基因决定的,家系分析显示为常染色体显性遗传。

  • Connective tissue nevi are uncommon hamartomas that may be acquired or may manifest an autosomal dominant pattern of inheritance.

    结缔组织痣是一种很少见的的错构瘤,可能与常染色体显性遗传有关。

  • 专业解析

    常染色体显性遗传(autosomal dominant inheritance)是单基因遗传病的一种主要传递方式,其核心特征是致病基因位于常染色体上,且显性等位基因只需单个拷贝即可引发表型表达。根据美国国家医学图书馆的遗传学资料库,当父母一方携带显性致病基因时,子代有50%的概率通过遗传获得该基因并患病,无论性别如何。例如亨廷顿舞蹈症和马凡综合征均通过此模式传递,患者通常表现出代际连续发病的特征,即每代都可能出现病例,这与隐性遗传的隔代传递形成鲜明对比。

    该遗传模式的关键特点包括:

    1. 垂直传递性:致病基因在家族中呈垂直传递,患者至少有一位亲代患病(除新发突变情况)
    2. 性别均等性:男女患病概率均等,不同于性染色体相关疾病
    3. 不完全外显率:部分携带者可能因修饰基因或环境因素不表现症状,这种现象在视网膜母细胞瘤病例中尤为明显

    值得注意的是,《医学遗传学原理》特别强调显性致病基因可能源自父系或母系的生殖细胞新发突变,这类突变约占软骨发育不全病例的80%。临床诊断时需结合家系图谱分析与基因检测,准确区分遗传性突变与自发突变。

    网络扩展资料

    autosomal dominant inheritance 是遗传学中的专业术语,中文译为“常染色体显性遗传”,具体解释如下:

    1.定义与组成

    综合含义为:显性致病基因位于常染色体上,只需单个等位基因即可导致疾病或性状显性表现。


    2.遗传机制与特点


    3.实例与应用


    4.补充信息

    如需进一步了解具体疾病或遗传机制,建议查阅遗传学教材或权威医学数据库。

    别人正在浏览的英文单词...

    【别人正在浏览】