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

摘要牙本质形成一种体染色体显性遗传的中胚层缺陷。

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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.

先天性一种先天发育异常性科疾病,遗传方式有常染色体显性遗传、常染色体隐性遗传和X连锁隐性遗传。

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

际区真实花纹可能属于常染色体显性遗传。

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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.

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

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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,多数是常染色的遗传模式。

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Reel知识卷轴

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 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.

来说, 肢端皮肤脱皮综合征是以常染色方式遗传的。

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Reel知识卷轴

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 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)蛋白C和S缺乏症有两种,均为常染色遗传。

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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.

镰贫是一种常染色遗传病,因此需要两个β-珠蛋白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.

这种变异以常染色遗传方式遗传,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地海贫血是一种常染色遗传病,由16号染色上的α珠蛋白基因缺陷引起。

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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蛋白。

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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.

多数的突变都以常染色模式遗传,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疾病,由血红素合成途径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,但它是常染色隐形遗传的;患者内两条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,是常染色遗传病,血红蛋白的β-珠蛋白发突变,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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