Affiliations: Department of Cellular and Molecular Physiology,
Pennsylvania State University College of Medicine, Hershey, PA, USA | Department of Pediatrics, Pennsylvania State
University College of Medicine, Hershey, PA, USA
Note: [] Correspondence: Joanna Floros, Ph.D., Department of Cellular and
Molecular Physiology, Pennsylvania State University College of Medicine, 500
University Drive, H166, Hershey, PA 17033, USA, Tel.: +1 717 531 6972, Fax: +1
717 531 7667, E-mail: [email protected]
Abstract: We have previously identified an allele of the human SP-A2 gene that
occurs with greater frequency in an RDS population [12]. Because of
the importance of SP-A in normal lung function and its newly emerging role in
innate host defense and regu-lation of inflammatory processes, we wish to
better characterize genotypes of both SP-A1 and SP-A2 genes. It has
been determined that SP-D shares similar roles in immune
response. Therefore, in this report we 1) describe a novel, non
radioactive PCR based-cRFLP method for genotyping both SP-A and SP-D; 2)
describe two previously unpublished biallelic polymorphisms within the SP-D
gene; 3) present the partial sequence of one new SP-A1 allele (6A14) and
describe other new SP-A1 and SP-A2 alleles; and 4) describe additional
methodologies for SP-A genotype assessment. The ability to more
accurately and efficiently genotype samples from individuals with various
pulmonary diseases will facilitate population and family based association
studies. Genetic poly-morphisms may be identified that partially
explain individual disease susceptibility and/or treatment effectiveness.
