Zonana J
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201-3098.
Semin Dermatol. 1993 Sep;12(3):241-6.
X-linked hypohidrotic (anhidrotic) ectodermal dysplasia (EDA) results in abnormal morphogenesis of the teeth, hair, and eccrine sweat glands. The disorder is inherited as an X-linked recessive trait with significant morbidity and mortality in affected males, but with little to no clinical expression in many carrier females. Therefore, despite much effort, carrier detection based on clinical findings has been problematic. The locus for the disorder has now been localized to a region of less than one million base pairs on the X-chromosome, permitting DNA based carrier, prenatal, and early neonatal testing for many families. The isolation and sequencing of the EDA gene itself should be forthcoming by the application of the techniques of positional cloning. The isolation of the gene will allow direct mutation detection in even sporadic cases, and will further improve genetic counseling. It will also permit analysis of how the gene functions in the normal development of the epidermal and oral ectoderm, which may result in improved therapies for the disorder.
X连锁隐性少汗型（无汗型）外胚层发育不良（EDA）会导致牙齿、毛发和小汗腺的形态发生异常。该疾病作为X连锁隐性性状遗传，患病男性有显著的发病率和死亡率，但许多携带该基因的女性几乎没有临床症状。因此，尽管付出了很多努力，但基于临床症状来检测携带者一直存在问题。目前该疾病的基因座已定位到X染色体上小于100万个碱基对的区域，这使得许多家庭能够进行基于DNA的携带者检测、产前检测和早期新生儿检测。通过应用定位克隆技术，EDA基因本身的分离和测序即将完成。该基因的分离将使即使是散发病例也能直接检测到突变，并进一步改善遗传咨询。这也将有助于分析该基因在表皮和口腔外胚层正常发育中的作用，从而可能改进对该疾病的治疗方法。
