The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
该病属常染色体隐性遗传,与X-染色体关联,所以,母亲是基因携带者的男性表现为发病。
Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.
AT M基因突变可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,该病特点是不协调的肌肉运动和神经退化。
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型的家庭成员,并鉴定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。
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基因与中国人常染色体隐性遗传早发型帕金森病(AR EP)家系的关系。
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。
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。
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