Objective to identify the mutation gene of a Chinese family with ectopia lentis.

目的研究我国单纯性晶状体异位家系的致病基因，并确定基因突变。

youdao

If a copy of a gene is a bit different from the original, that's called a genetic mutation.

如果一个复制的基因与原来的有些许不同，那就叫做基因突变。

youdao

For example, the hereditary hemochromatosis mutation protects carriers from iron-deficiency because the mutated gene allows increased efficiency of iron absorption.

例如，因为突变的基因可以提高铁的吸收效率，所以遗传性血色素沉着病突变可以保护带菌者不缺铁。

youdao

"When Darwin first proposed his theory in eighteen fifty-nine, he had no concept of a gene, no concept of a chromosome, no concept of mutation, and certainly no concept of things like DNA and RNA."

VOA: special.2009.12.01

Oculocutaneous albinism type 1 is caused by a mutation in a gene on chromosome 11.

CNN: Albinism

Oculocutaneous albinism type 2 is caused by a mutation in a gene on chromosome 15.

CNN: Albinism

The gene mutation ends up causing lower-than-normal production of a protein called ApoCIII.

CNN: Gene mutation protects against milk shakes and other fatty fare