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。

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模式。

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

原因多为常染色体显，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多囊肾患者的表现是怎样的？

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乏症有两种，均为常染色体显。

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，意味着可以代代相。

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。

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。

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，因此需要两个β-珠蛋白基因序列均突变才能获得该。

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，由16号染色体上的α珠蛋白基因陷引起。

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：急间歇卟啉是常染色体显疾，由血红素合成途径中乏卟胆原脱氨酶导致。

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，涉及CFTR基因；CFTR代表跨膜导调节基因，它编码了CFTR蛋白。

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，是常染色体隐，其中血红蛋白的β-珠蛋白发生突变，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经历过，这使得科学家相认为它是会的。

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，与CFTR基因有关，在肺和胰腺组织中变最为显著，但也可以影响其他器官。

But I don't advise my patients to count their glasses of water unless they have kidney stones in their past or if they have autosomal dominant polycystic kidney disease.

但我不会建议我的人去数他们喝了多少杯水，除非他们过去有肾结石或者患有常染色体显多囊肾。

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，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。