Genetics of the hydrophobic surfactant proteins

[摘要] The hydrophobic surfactant proteins, SP-B and SP-C, serve important roles in surfactant function and metabolism. Both proteins are encoded by single genes, located on human chromosomes 2 and 8 respectively, which have been characterized and extensively studied. Mutations in the SP-B gene have been shown to cause severe lung disease, and polymorphisms in the SP-B gene may be associated with the development of RDS in premature infants. In contrast, mutations in the SP-C gene have not yet been identified or shown to cause lung disease, although given the apparent importance of SP-C in surfactant function, this remains a possibility. (C) 1998 Elsevier Science B.V. All rights reserved.

[发布日期] 1998-11-19

[关键词] respiratory distress syndrome;surfactant protein;alveolar proteinosis;hyaline membrane disease;bronchopulmonary dysplasia;interstitial lung disease;polymorphism;prematurity