Patrizio P, Zielenski J
Reproductive Endocrinology and Infertility, Fertility Center of San Antonio, TX 78229, USA.
Mol Med Today. 1996 Jan;2(1):24-31. doi: 10.1016/1357-4310(96)88755-7.
Genetic diseases presenting with different phenotypes are generally classified as distinct disorders before their molecular defect is revealed, as exemplified by the recent advance in understanding of the molecular biology of cystic fibrosis and an obstructive form of infertility, known as congenital absence of the vas deferens. The majority of men with congenital absence of the vas deferens have a defect in both copies of the CFTR gene and therefore represent a distinct phenotypic form of cystic fibrosis. These developments help us to gain new insight into the genetic basis of phenotypic variability and the possible contributing mechanisms in cystic fibrosis. Some of the lessons learned from the relationship between cystic fibrosis and congenital absence of the vas deferens may be useful in the understanding of other genetic disorders.
表现出不同表型的遗传疾病通常在其分子缺陷被揭示之前被归类为不同的病症，最近对囊性纤维化和一种阻塞性不育形式（即先天性输精管缺如）分子生物学的理解进展就是例证。大多数先天性输精管缺如的男性CFTR基因的两个拷贝都有缺陷，因此代表了囊性纤维化的一种独特表型形式。这些进展有助于我们对囊性纤维化表型变异性的遗传基础以及可能的促成机制获得新的认识。从囊性纤维化与先天性输精管缺如之间的关系中学到的一些经验教训可能有助于理解其他遗传疾病。
