autosomal
adj. 常染色体的;正染色体的
2025-08-10 21:08 浏览次数 5
adj. 常染色体的;正染色体的
"autosomal gene"
autosomal chromosome体染色体
an autosomal常染色体
autosomal hereditary常染色体遗传
autosomal dominant inheritance常染色体显性遗传
autosomal recessive常染色体隐性性状
autosomal component常染色体组分
autosomal gain常染色体获得
Autosomal Chromosomes对被命名为常染色体
dominant autosomal显性常染色体的
autosomal inheritance[遗] 正染色体遗传;[遗] 常染色体遗传
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癥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。
Trapped Neutrophil Syndrome is an autosomal recessive disease which results in mature neutrophils being unable to migrate from the bone marrow into the blood.
遗传性嗜中性白血球减少癥是一种常染色体隐性遗传疾病,该疾病导致成体中性粒细胞无法从骨髓迁移到血液中。
Rare autosomal recessive inheritance has also been described.
据报道很少一部分为常染色体隐性遗传型。
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,并鑒定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。
Certain autosomal translocations in the heterozygous state can be fully viable.
呈杂合子状态的某些常染色体易位完全可以生活的。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
遗传性无纤维蛋白原血癥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。
Klinefelter syndrome is still the most common chromosomal disease, balanced translocation accounts for largest proportion of autosomal abnormality.
克氏癥仍是最常见的染色体疾病,染色体平衡易位核型占常染色体异常核型比例最大。
Haploid and autosomal variation within a linguistic continuum of the Uralic-speaking people of Eurasia.
单倍体和常染色体显示欧亚大陆的乌拉尔语言为母语的人是连续的。
It is shown that the mean relative lengths and centromeric indices of autosomal SCs agree closely with those of mitotic chromosomes.
结果表明,常染色体联会复合体的相对长度和着丝点指数与体细胞染色体的相应参数具有很好的吻合性。
Lipid storage myopathy is one kind of autosomal recessive inherited disease with lipid abnormally sludging in the muscle cell.
脂质沉积性肌病是一种肌细胞内脂肪异常沉积引起的常染色体隐性遗传病。
Harlequin ichthyosis ( HI ) is a severe subtype of autosomal recessive congenital ichthyoses ( ARCI ) .
丑角样鱼鳞病是常染色体隐性遗传性鱼鳞病的一种严重亚型。
Maple syrup urine disease (MSUD), or branched-chain ketoaciduria, is an autosomal recessive disorder of branched-chain amino acid metabolism.
枫糖尿癥是支链氨基酸代谢异常的体染色体隐性遗传疾病。
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.
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。
Result: ATD is an uncommon autosomal recessive hereditary disorder of osteochondrodysplasia.
结果:①ATD是一种少见的常染色体隐性遗传性骨软骨发育不良疾病。
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癥家系的调查结果,该家系属于先天性睑裂狭小综合癥,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,该病癥符合常染色体显性遗传,具延迟外显性。
Progressive familial intrahepatic choleatasia(PFIC)is an autosomal recessive inherited children liver cholestasis characterized by severe jaundice and pruritus.
进行性家族性肝内胆汁淤积(PFIC)是一组常染色体隐性遗传肝细胞源性儿童胆汁淤积癥。
The recurrence risk for this disease is, of course, 25% because of the autosomal recessive inheritance pattern.
因为它是常染色体隐性遗传的,所以它在家族中的发病率是25%。
Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.
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。
Genetic counseling. Cystinosis is inherited in an autosomal recessive manner.
胱氨酸病是以常染色体隐性方式遗传。
An aneuploid state in which a third homologous chromosome is present in addition to the normal autosomal pair is called trisomy.
除了正常染色体对以外,还存在有第二种同源染色体的非整倍体状态,被称为三体性。
Bovine leukocyte adhesion deficiency (BLAD) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.
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。
At present, three modes of inheritance are identified including maternal uniparental disomy for chromosome 7 and autosomal dominant or autosomal recessive inheritance.
目前研究发现此病有三种遗传方式:即母源第7号染色体单亲双体、常染色体显性遗传及常染色体隐性遗传。
Noonan syndrome is defined as an autosomal dominant genetic syndrome commonly characterized by short stature, congenital heart defects, and unique facial features.
努南综合癥被定义为一种常染色体显性的遗传性综合癥,其一般特征为身材矮小、先天性心脏缺损、以及独特的面部特征。