| IJCEP Copyright © 2007-All rights reserved. |
Int J Clin Exp Pathol 2013;6(2):267-272
Original Article
Surfactant protein B deficiency and gene mutations for
neonatal respiratory distress syndrome in China Han
ethnic population
Xiaojuan Yin*, Fanping Meng*, Yan wang*, Lu Xie, Xiangyong Kong, Zhichun Feng
Affiliated Bayi Children’s Hospital,Beijing Military Region General Hospital, Beijing, China; Liver cirrhosis Division,
the No.302 Hospital of PLA, Beijing, China. *Contributed equally.
Received November 18, 2012; Accepted December 11, 2012; Epub January 15, 2013; Published February 1,
2013
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. Conclusion: 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. (IJCEP1211018).
Keywords: Polymorphisms, respiratory distress syndrome, surfactant protein B, neonates
Address all correspondence to:
Dr. Zhichun Feng,
Affiliated Bayi Children’s Hospital
Beijing Military Region General Hospital
No 5, Nan Mencang, Dongcheng District
Beijing 100700, China.
Email: drzhichunfeng@gmail.com
Original Article
Surfactant protein B deficiency and gene mutations for
neonatal respiratory distress syndrome in China Han
ethnic population
Xiaojuan Yin*, Fanping Meng*, Yan wang*, Lu Xie, Xiangyong Kong, Zhichun Feng
Affiliated Bayi Children’s Hospital,Beijing Military Region General Hospital, Beijing, China; Liver cirrhosis Division,
the No.302 Hospital of PLA, Beijing, China. *Contributed equally.
Received November 18, 2012; Accepted December 11, 2012; Epub January 15, 2013; Published February 1,
2013
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. Conclusion: 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. (IJCEP1211018).
Keywords: Polymorphisms, respiratory distress syndrome, surfactant protein B, neonates
Address all correspondence to:
Dr. Zhichun Feng,
Affiliated Bayi Children’s Hospital
Beijing Military Region General Hospital
No 5, Nan Mencang, Dongcheng District
Beijing 100700, China.
Email: drzhichunfeng@gmail.com
 | |  | |  | |  | |  | |  |
