title: Surfactant protein B deficiency and gene mutations for neonatal respiratory distress syndrome in China Han ethnic population.
abstract: OBJECTIVE
  To determine whether the SP-B deficiency and gene mutations in exon 4 is associated with neonatal RDS in China Han ethnic population.
  
  
  METHODS
  The study population consisted of 40 neonates with RDS and 40 neonates with other diseases as control in China Han ethnic population. We Compared SP-B expression in lung tissue and bronchoalveolar lavage fluid with immunoblotting, and analyzed mutations in the SP-B gene with polymerase chain reaction (PCR) and gene sequencing.
  
  
  RESULTS
  In RDS group, low mature Surfactant protein B was found in both lung tissue and bronchoalveolar lavage fluid in 8 neonates. In control group, only 4 neonates with low mature Surfactant protein B in both lung tissue and bronchoalveolar lavage fluid. In RDS group, 20 neonates were found to have mutations in exon 4, 12 homozygous mutations with C/C genotype and 8 heterozygous mutations with C/T genotype in surfactant protein B gene+1580 polymorphism. There were 8 cases mutations in control group, 1 in C/C and 7 in C/T genotype. The frequency of homozygotes with C/C genotype was 0.3 and frequency of heterozygotes with C/T genotype was 0.02 in RDS group. In control group, frequency of homozygotes with C/C genotype was 0.025 and frequency of heterozygote with C/T genotype was 0.175.
  
  
  CONCLUSIONS
  Low mature Surfactant protein B is associated with the pathogenesis of neonatal respiratory distress syndrome (RDS) in China Han ethnic population. Mutations in exon 4 of the surfactant protein B gene demonstrate an association between homozygous mutations with C/C genotype in SP-B gene and neonatal RDS.
authors: Affiliated Bayi Children's Hospital, Beijing Military Region General Hospital Beijing, China.
authors: Xiaojuan
authors: X
authors: Yin
authors: Fanping
authors: F
authors: Meng
authors: Yan
authors: Y
authors: Wang
authors: Lu
authors: L
authors: Xie
authors: Xiangyong
authors: X
authors: Kong
authors: Zhichun
authors: Z
authors: Feng
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D044466:Asian People / Q000235:genetics / Q000706:statistics & numerical data; D001992:Bronchoalveolar Lavage Fluid / Q000737:chemistry; D005091:Exons / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D007234:Infant, Premature; D008168:Lung / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011649:Pulmonary Alveolar Proteinosis / Q000151:congenital / Q000208:ethnology / Q000235:genetics; D037701:Pulmonary Surfactant-Associated Protein B / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D012127:Respiratory Distress Syndrome, Newborn / Q000208:ethnology / Q000235:genetics; D017563:Lung Diseases, Interstitial
chemical_list: D037701:Pulmonary Surfactant-Associated Protein B
keywords: Polymorphisms; neonates; respiratory distress syndrome; surfactant protein B