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Dentinogenesis imperfecta (DI) is a kind of mesodermal defect inherited in a simple autosomal dominant mode.

摘要牙本质形成不良是一种体染色体显性的中胚层缺陷。

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Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.

性小球是一种先异常性科疾病,式有常染色体显性、常染色体隐性和X连锁隐性

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Conclusion: The genetics of the true pattern in human palmar hypothenar area may belong to autosomal dominant inheritance.

手掌小鱼际区真实花纹可能属于常染色体显性

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Oculocutaneous albinism(OCA) is a group of autosomal recessive disorders of melanin synthesis,which is characterized by congenital hypopigmentation of skin,hair and eyes.

皮肤白化病是由于黑色素合成相关基因突变导致、皮肤、毛黑色素沉着减少或缺乏引起的一类常染色体隐形疾病的总称。

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Osmosis-神经

Many different types have been identified most of which are autosomal dominant.

目前已经鉴定出许多不同的类型,其中大多数是常染色体显的遗传

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Reel识卷轴

It wasn't until 2009 that 23 Me introduced autosomal DNA testing to the public.

直到 2009 年,23 Me 才向公众介绍了常染色体 DNA 检测。

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日常活医学科普

Causes It is mostly inherited as " autosomal dominant" pattern so patients have positive family history.

原因多为常染色体显遗传,患者有阳家族史。

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剑桥学霸读书分享

And then the next question would be how do patients with autosomal dominant polycystic kidney disease present?

下一个问题是常染色体显遗传多囊肾患者的表现是怎样的?

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Osmosis-

Mutations in BRCA-1 or BRCA-2 are both autosomal dominant mutations, which can be inherited and cause familial breast cancer.

BRCA-1和BRCA-2的突变都是常染色体显突变,可被遗传并导致家族乳腺癌。

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Life Noggin

Specifically, acral peeling skin syndrome is inherited in an autosomal recessive manner.

具体来说, 肢端皮肤脱皮综合征是以常染色体隐遗传的。

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Reel识卷轴

It wasn't until 2009 that 23andme introduced  autosomal DNA testing to the public.

直到 2009 年, 23andme 才向公众推出常染色体 DNA 检测。

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Osmosis-血液肿瘤

There are two types of familial, or congenital, protein C and S deficiency; both are inherited in an autosomal dominant manner.

家族(先天C和S缺乏症有两种,均为常染色体显遗传。

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Osmosis-遗传

All right, as a quick recap - Marfan syndrome is an autosomal dominant genetic disorder caused by mutations in the FBN1 gene.

得!快速回顾一下:马方综合征是一种由FBN1基因突变造成的常染色体显遗传病。

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Osmosis-血液肿瘤

Sickle cell is an autosomal recessive disease, so a mutation in both copies of the beta-globin gene is needed to get the disease.

镰贫是一种常染色体隐遗传病,因此需要两个β-珠基因序列均突变才能获得该病。

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Osmosis-神经

Individuals with tuberous sclerosis have a mutation in either the gene TSC1 or TSC2, and these mutations have an autosomal dominant inheritance pattern.

结节硬化症患者的TSC1或TSC2基因发了突变,为常染色体显遗传。

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Osmosis-遗传

The mutations are inherited in an autosomal recessive pattern, which means that you need mutated genes from both parents to get the disease.

这种变异以常染色体隐遗传方遗传,即只有同时遗传父母双方的突变基因才会患病。

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Osmosis-遗传

Huntington disease is an autosomal dominant genetic disorder, which means that one affected copy of a gene is enough to cause disease.

HD是一种常染色体显遗传病,意味着可以代代相传。

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Osmosis-遗传

All right, as a quick recap: alpha thalassemia is an autosomal recessive disorder caused by deletion of alpha globin genes on chromosome 16.

得!快速回顾一下:α地中海贫血是一种常染色体隐遗传病,由16号染色体上的α珠基因缺陷引起。

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Osmosis-呼吸

CF is an autosomal recessive disorder involving the CFTR gene, which stands for " cystic fibrosis transmembrane conductance regulator, " and this gene codes for the CFTR protein.

CF是一种常染色体隐形遗传病,涉及CFTR基因;CFTR代表跨膜传导调节基因,它编码了CFTR

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Osmosis-神经

Now most of these gene mutations are inherited in an autosomal dominant pattern, meaning that one copy of an altered SCA gene is enough to cause the disease.

大多数的突变都以常染色体显遗传,这代表一个SCA基因突变的拷贝足以引起这种疾病。

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Osmosis-血液肿瘤

All right, as a quick recap, acute intermittent porphyria is an autosomal dominant disorder caused by a deficiency of the enzyme porphobilinogen deaminase in the heme synthesis pathway.

好,快速回顾一下:急间歇卟啉病是常染色体显疾病,由血红素合成途径中缺乏卟胆原脱氨酶导致。

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Osmosis-呼吸

CF develops when there's a mutation in the CFTR gene, but because it's autosomal recessive, you need to inherit two mutated CFTR genes, one from mom and one from dad.

CFTR基因突变时会产CF,但它是常染色体隐形遗传的;患者体内两条CFTR突变基因,一条来自母亲,另一条来自父亲。

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Osmosis-血液肿瘤

As a quick recap: sickle cell disease is an autosomal recessive genetic disease where the beta-globin subunit of hemoglobin is misshapen, which causes red blood cells to sickle when deoxygenated.

好!简要回顾一下:镰状细胞病,是常染色体隐遗传病,其中血红的β-珠突变,脱氧情况下会导致红细胞镰变。

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Osmosis-

There are also genetic risk factors like having the BRCA-1 or BRCA-2 mutation, which are both autosomal dominant mutations, which in addition to ovarian cancer, carry with them an increased risk of breast cancer.

还有遗传相关的风险因素,如BRCA-1和BRCA-2突变,它们都是常染色体显突变;除了卵巢癌之外,携带它们也会增加乳腺癌患病风险。

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