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。

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？

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

目前定出许多不同的类型，其中大多数是常染色体显的遗传模式。

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。

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，被遗传并导致家族乳腺癌。

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。

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，意味着以代代相传。

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

家族（先）白C和S缺乏症有两种，均为常染色体显遗传。

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。

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-珠白基因序列均突变才能获得该病。

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珠白基因缺陷引起。

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白。

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。

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基因突变时会产生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。

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，其中血红白的β-珠白发生突变，脱氧情况下会导致红细胞镰变。

The so-called photic sneeze reflex, AKA the Autosomal Cholinergic Helio-Ophthalmic Outburst, abbreviated" ACHOO" … yes, seriously… is experienced by about 1 in 4 people, leading scientists to believe it is genetically heritable.

所谓的“强光喷嚏反射”，又称常染色体胆碱能赫里奥眼突出症，简称“Achoo”… 是的，讲真… 大约有四分之一的人历过，这使得科学家相认为它是会遗传的。

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。

Time for a quick recap: cystic fibrosis is an autosomal recessive disorder involving the CFTR gene, which most notably causes issues with the lungs and the pancreas, but can also affect other organs.

得！快速回顾一下：囊纤维化是一种常染色体隐形遗传病，与CFTR基因有关，在肺和胰腺组织中病变最为显著，但也以影响其他器官。

It's autosomal dominant, which means that even if there's a normal copy of the gene, a single mutated copy of the gene – in other words a heterozygous mutation - is sufficient to cause the disease.

这是一种常染色体显遗传病，这意味着即使有一个正常基因，只要染色体上有一个突变的基因，即杂合突变，就足以致病。