Comparison of surfactant protein B polymorphisms of healthy term newborns with preterm newborns having respiratory distress syndrome



Título del documento: Comparison of surfactant protein B polymorphisms of healthy term newborns with preterm newborns having respiratory distress syndrome
Revista: Brazilian journal of medical and biological research
Base de datos: PERIÓDICA
Número de sistema: 000350938
ISSN: 0100-879X
Autores: 1
1
1
2
2
1
Instituciones: 1Universidade de Sao Paulo, Faculdade de Medicina, Sao Paulo. Brasil
2Saint Louis University, Saint Louis, Misuri. Estados Unidos de América
Año:
Periodo: Jun
Volumen: 40
Número: 6
Paginación: 779-786
País: Brasil
Idioma: Inglés
Tipo de documento: Artículo
Enfoque: Experimental, aplicado
Resumen en inglés Polymorphisms and mutations in the surfactant protein B (SP-B) gene have been associated with the pathogenesis of respiratory distress syndrome (RDS). The objective of the present study was to compare the frequencies of SP-B gene polymorphisms between preterm babies with RDS and healthy term newborns. We studied 50 preterm babies with RDS (inclusion criteria - newborns with RDS and gestational age between 28 and 33 weeks and 6 days), and 100 healthy term newborns. Four SP-B gene polymorphisms were analyzed: A/C at nucleotide -18, C/T at nucleotide 1580, A/G at nucleotide 9306, and G/C at nucleotide 8714, by PCR amplification of genomic DNA and genotyping by cRFLP. The healthy newborns comprised 42 female and 58 male neonates; 39 were white and 61 non-white. The RDS group comprised 21 female and 29 male preterm neonates; 28 were white and 22 non-white. Weight ranged from 640 to 2080 g (mean: 1273 g); mean gestational age was 31 weeks and 2 days (range: 28-33 weeks and 6 days). When white children were analyzed separately, a statistically significant difference in the G/C polymorphism at 8714 was observed between groups (P = 0.028). All other genotype frequencies were similar for both groups when sex and race were analyzed together. Analysis of the SP-B polymorphism G/C at nucleotide 8714 showed that among white neonates the GG genotype was found only in the RDS group at a frequency of 17% and the GC genotype was more frequently found in healthy term newborns. These data demonstrate an association of GG genotype with RDS
Disciplinas: Medicina
Palabras clave: Neumología,
Pediatría,
Genética,
Síndrome de distrés respiratorio,
Proteína surfactante,
Polimorfismo genético,
Recién nacidos,
Prematuros
Keyword: Medicine,
Pediatrics,
Pneumology,
Genetics,
Respiratory distress syndrome,
Surfactant protein,
Genetic polymorphism,
Newborn,
Preterm children
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