It is estimated that there are some 7000 different diseases caused by an abnormality in a single gene. Most of these are rare diseases and in most cases scientists have yet to identify the exact location of the culprit genes.
根據推測，肇因於單一基因異常的疾病約有七千種，大部分都屬於罕見疾病，也都還不知道基因的確切所在位置。