Tizzano E F, Chitayat D, Buchwald M
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Hum Mol Genet. 1993 Mar;2(3):219-24. doi: 10.1093/hmg/2.3.219.
An improved understanding of the expression of the cystic fibrosis gene (CFTR) will assist our approach to preventing the organ damage caused by cystic fibrosis (CF). We have studied the expression of CFTR in human fetal tissues at different gestational ages using in situ hybridization to detect CFTR mRNA. CFTR was principally expressed in less differentiated cells of endodermal origin. The highest levels were seen in specific areas of the developing pancreas, liver, gall bladder and intestine, with lower but significant levels in lung and trachea. Expression was also seen in reproductive tissues, such as epididymis and third trimester uterus and fallopian tubes, and in addition, sweat and salivary glands. No detection of CFTR mRNA was found in many other relevant tissues. The detection of CFTR transcript in these organs is consistent with the clinical manifestations of CF and the function of CFTR as a chloride channel early in development. The localization and levels of expression described have implications regarding the pathogenesis of organ damage and the potential gains that can be achieved by early therapy in the disease.
对囊性纤维化基因（CFTR）表达的深入了解将有助于我们预防囊性纤维化（CF）所导致的器官损伤。我们使用原位杂交技术检测CFTR mRNA，研究了不同孕周的人胎儿组织中CFTR的表达情况。CFTR主要在内胚层来源的分化程度较低的细胞中表达。在发育中的胰腺、肝脏、胆囊和肠道的特定区域中表达水平最高，在肺和气管中的表达水平较低但仍很显著。在生殖组织如附睾、妊娠晚期子宫和输卵管中也有表达，此外，在汗腺和唾液腺中也有表达。在许多其他相关组织中未检测到CFTR mRNA。在这些器官中检测到CFTR转录本与CF的临床表现以及CFTR在发育早期作为氯离子通道的功能是一致的。所描述的表达定位和水平对器官损伤的发病机制以及该疾病早期治疗可能取得的潜在成效具有重要意义。
