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Korean J Pediatr. 2004 Jul;47(7):735-739. Korean. Original Article.
Choe JH , Oh MH , Ko JH , Kim SY , Lee IK , Bae CW .
Department of Pediatrics, Soonchunhyang University Hospital, Chonan, Korea. omh@schch.co.kr
Protein Section, Laboratory of Metabolism(LM), National Cancer Institute(NCI), Korea.
National Institute of Health(NIH), Korea.
Department of Pediatrics, Kyunghee University Hospital, Seoul, Korea.
Abstract

PURPOSE: Respiratory distress syndrome(RDS) is caused by a deficiency of pulmonary surfactant, which is a lipoprotein complex. Both low levels of surfactant protein A(SP-A) and SP-A alleles have been associated with RDS. However, the genes underlying susceptibility to RDS are insufficiently known. The candidate-gene approach was used to study the association between the SP-A gene locus and RDS in the genetically homogeneous Korean population. METHODS: A PCR-cRFLP-based methodology was used to detect SP-A genotype. Twenty four neonates with RDS were matched pairwise to those without RDS. RESULTS: The frequencies of specific genotypes such as 6A(2), 1A(0) were increased, but the frequency of specific 1A(2) genotype was increased in control group. 6A(2)/1A(0) were also increased in the RDS group. Infants who did not have RDS develop, despite prematurity and lack of steroid therapy, had a higher frequency of the 1A(2) allele than infants who had received steroid therapy and had RDS develop. However, infants who had received steroid therapy and had RDS develop had a higher frequency of the 1A(0) allele than infants who did not have RDS develop, despite prematurity and lack of steroid therapy. CONCLUSION: SP-A alleles/haplotypes are susceptible(6A(2), 1A(0), 6A(2)/1A(0)) or protective(1A(2)) factors for RDS. We conclude that the SP-A gene locus is an important determinant for predisposition to RDS in neonates

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