• The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.

    该病常染色体隐性遗传,X-染色体关联,所以母亲基因携带者男性表现为发病。

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  • Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.

    AT M基因突变导致共济失调毛细血管扩张症(AT),一种常染色体隐性遗传病,该病特点是不协调肌肉运动神经退化。

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  • Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.

    方法筛选出患长qt综合征1家庭成员,鉴定KCNQ1基因中个常染色体显性遗传突变基因(R190 Q)。

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  • Objective:To detect the possible relationship between DJ-1 gene and the Chinese 3 pedigrees with autosomal recessive early-onset Parkinson s disease(AREP).

    前言: 目的:探讨DJ-1基因中国人常染色体隐性遗传早发型帕金森AR EP)家关系

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  • 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.

    均无耳聋病史其它部位畸形。结论:杯状耳形成父母双方中方杯状耳基因决定的,系分析显示为常染色体显性遗传。

    youdao

  • 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.

    均无耳聋病史其它部位畸形。结论:杯状耳形成父母双方中方杯状耳基因决定的,系分析显示为常染色体显性遗传。

    youdao

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