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。
The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
目的探讨纯合子定位法在罕见常染色体隐性遗传病致病基因精确定位中的作用。
Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.
目前根据遗传方式分为1型(常染色体显性)和2型(常染色体隐性) ,每一型根据不同基因缺陷又分为许多亚型。
The limb-girdle muscular dystrophies are divided into two types according to inheritance pattern, type 1 is autosomal dominant and type 2 is autosomal recessive.
遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
牛白细胞粘附缺陷病(BLAD)是一种常染色体单基因隐性遗传疾病,病因为白细胞表面整合素cd 18亚单位基因突变所致。
Bovine leukocyte adhesion deficiency (BLAD) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.
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。
Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.
翻舌为常染色体单基因隐性遗传,阳性为隐性性状。
Twisting tongue is the recessive heredity of single gene of autosome, while the positive type is the recessive character.
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。
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。
Objective:To detect the possible relationship between DJ-1 gene and the Chinese 3 pedigrees with autosomal recessive early-onset Parkinson s disease(AREP).
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