用户名: 密码: 验证码:
Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort
详细信息    查看全文
  • 作者:Yu-Jun Chen ; Jennifer Anne Wambach ; Kelcey DePass…
  • 关键词:genetic epidemiology ; human population genetics ; neonatal respiratory distress syndrome ; pulmonary surfactant
  • 刊名:World Journal of Pediatrics
  • 出版年:2016
  • 出版时间:May 2016
  • 年:2016
  • 卷:12
  • 期:2
  • 页码:190-195
  • 全文大小:208 KB
  • 参考文献:1.Avery ME, Mead J. Surface properties in relation to atelectasis and hyaline membrane disease. AMA J Dis Child 1959;97:517–523.PubMed
    2.Barber M, Blaisdell CJ. Respiratory causes of infant mortality: progress and challenges. Am J Perinatol 2010;27:549–558.CrossRef PubMed
    3.Anadkat JS, Kuzniewicz MW, Chaudhari BP, Cole FS, Hamvas A. Increased risk for respiratory distress among white, male, late preterm and term infants. J Perinatol 2012;32:780–785.CrossRef PubMed PubMedCentral
    4.Nogee LM, De Mello DE, Dehner LP, Colten HR. Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. N Engl J Med 1993;328:406–410.CrossRef PubMed
    5.Nogee LM, Garnier G, Dietz HC, Singer L, Murphy AM, de Mello DE, et al. A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds. J Clin Invest 1994;93:1860–1863.CrossRef PubMed PubMedCentral
    6.Cole FS, Nogee LM, Hamvas A. Defects in surfactant synthesis: clinical implications. Pediatr Clin North Am 2006;53:911–927, ix.CrossRef PubMed
    7.Hamvas A. Evaluation and management of inherited disorders of surfactant metabolism. Chin Med J (Engl) 2010;123:2943–2947.
    8.Nogee LM, Wert SE, Proffit SA, Hull WM, Whitsett JA. Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency. Am J Respir Crit Care Med 2000;161:973–981.CrossRef PubMed
    9.Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med 2004;350:1296–1303.CrossRef PubMed
    10.Cameron HS, Somaschini M, Carrera P, Hamvas A, Whitsett JA, Wert SE, et al. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 2005;146:370–375.CrossRef PubMed
    11.Brasch F, Schimanski S, Mühlfeld C, Barlage S, Langmann T, Aslanidis C, et al. Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Respir Crit Care Med 2006;174:571–580.CrossRef PubMed
    12.Wegner DJ, Hertzberg T, Heins HB, Elmberger G, Mac Coss MJ, Carlson CS, et al. A major deletion in the surfactant protein-B gene causing lethal respiratory distress. Acta Paediatr 2007;96:516–520.CrossRef PubMed
    13.McBee AD, Wegner DJ, Carlson CS, Wambach JA, Yang P, Heins HB, et al. Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene. Pediatr Pulmonol 2008;43:443–450.CrossRef PubMed PubMedCentral
    14.Wambach JA, Yang P, Wegner DJ, An P, Hackett BP, Cole FS, et al. Surfactant protein-C promoter variants associated with neonatal respiratory distress syndrome reduce transcription. Pediatr Res 2010;68:216–220.CrossRef PubMed PubMedCentral
    15.Agrawal A, Hamvas A, Cole FS, Wambach JA, Wegner D, Coghill C, et al. An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatr Res 2012;71:633–637.CrossRef PubMed PubMedCentral
    16.Hamvas A. Inherited surfactant protein-B deficiency. Adv Pediatr 1997;44:369–388.PubMed
    17.Cole FS, Hamvas A, Rubinstein P, King E, Trusgnich M, Nogee LM, et al. Population-based estimates of surfactant protein B deficiency. Pediatrics 2000;105:538–541.CrossRef PubMed
    18.Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, et al. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res 2008;63:645–649.CrossRef PubMed PubMedCentral
    19.Hamvas A, Wegner DJ, Carlson CS, Bergmann KR, Trusgnich MA, Fulton L, et al. Comprehensive genetic variant discovery in the surfactant protein B gene. Pediatr Res 2007;62:170–175.CrossRef PubMed PubMedCentral
    20.Hamvas A, Heins HB, Guttentag SH, Wegner DJ, Trusgnich MA, Bennet KW, et al. Developmental and genetic regulation of human surfactant protein B in vivo. Neonatology 2009;95:117–124.CrossRef PubMed PubMedCentral
    21.Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, et al. Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. Pediatrics 2012;130:e3–e4.CrossRef
    22.Qian L, Liu C, Zhuang W, Guo Y, Yu J, Chen H, et al. Neonatal respiratory failure: a 12-month clinical epidemiologic study from 2004 to 2005 in China. Pediatrics 2008;121:e3–e4.CrossRef
    23.Ma XL, Xu XF, Chen C, Yan CY, Liu YM, Liu L, et al. Epidemiology of respiratory distress and the illness severity in late preterm or term infants: a prospective multi-center study. Chin Med J (Engl) 2010;123:2776–2780.
    24.Yin X, Meng F, Wang Y, Xie L, Kong X, Feng Z. Surfactant protein B deficiency and gene mutations for neonatal respiratory distress syndrome in China Han ethnic population. Int J Clin Exp Pathol 2013;6:267–272.PubMed PubMedCentral
    25.Jiang L, Wu YD, Xu XF, Du LZ. Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants. Chin Med J (Engl) 2012;125:1594–1598.
    26.Yin RX, Chen GQ, Wang Y, Lin WX, Yang DZ, Pan SL. Effect of the 3’APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations. BMC Med Genet 2007;8:45.
    27.Deng YJ, Yin RX, Li YY, Zhou YJ, Lin WX, Pan SL, et al. Polymorphism of the sterol regulatory element-binding protein-2 gene and its association with serum lipid levels in the Guangxi Hei Yi Zhuang and Han populations. Am J Med Sci 2009;337:14–22.CrossRef
    28.Zhao Q, Pan S, Qin Z, Cai X, Lu Y, Farina SE, et al. Gene flow between Zhuang and Han populations in the China-Vietnam borderland. J Hum Genet 2010;55:774–776.CrossRef PubMed
    29.Hamvas A, Trusgnich M, Brice H, Baumgartner J, Hong Y, Nogee LM, et al. Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards. Pediatr Res 2001;50:666–668.CrossRef PubMed
    30.Metzker ML. Sequencing technologies-the next generation. Nat Rev Genet 2010;11:31–46.CrossRef PubMed
    31.Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, et al. Quantification of rare allelic variants from pooled genomic DNA. Nat Methods 2009;6:263–265.CrossRef PubMed PubMedCentral
    32.Li B, Leal SM. Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. Am J Hum Genet 2008;83:311–321.CrossRef PubMed PubMedCentral
    33.Shen GQ, Abdullah KG, Wang QK. The TaqMan method for SNP genotyping. Methods Mol Biol 2009;578:293–306.CrossRef PubMed
    34.Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, et al. Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res 2006;59:801–805.CrossRef PubMed
    35.Lin Z, Pearson C, Chinchilli V, Pietschmann SM, Luo J, Pison U, et al. Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS. Clin Genet 2000;58:181–191.CrossRef PubMed
    36.Floros J, Fan R, Diangelo S, Guo X, Wert J, Luo J. Surfactant protein (SP) B associations and interactions with SP-A in white and black subjects with respiratory distress syndrome. Pediatr Int 2001;43:567–576.CrossRef PubMed PubMedCentral
    37.Guo X, Lin HM, Lin Z, Montaño M, Sansores R, Wang G, et al. Surfactant protein gene A, B, and D marker alleles in chronic obstructive pulmonary disease of a Mexican population. Eur Respir J 2001;18:482–490.CrossRef PubMed
    38.Karjalainen MK, Haataja R, Hallman M. Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. Ann Med 2008;40:56–65.CrossRef PubMed
    39.Wambach JA, Wegner DJ, Heins HB, Druley TE, Mitra RD, Hamvas A, et al. Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome. J Pediatr 2014;164:1316–1321.e3.CrossRef PubMed PubMedCentral
    40.Kruglyak L, Nickerson DA. Variation is the spice of life. Nat Genet 2001;27:234–236.CrossRef PubMed
  • 作者单位:Yu-Jun Chen (1) (2)
    Jennifer Anne Wambach (2)
    Kelcey DePass (2)
    Daniel James Wegner (2)
    Shao-Ke Chen (3)
    Qun-Yuan Zhang (4)
    Hillary Heins (2)
    Francis Sessions Cole (2)
    Aaron Hamvas (2) (5)

    1. Division of Neonatology, Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Nanning, China
    2. Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, USA
    3. Department of Pediatrics, Guangxi Maternal and Child Health Hospital, Nanning, China
    4. Division of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, USA
    5. Division of Neonatology, Ann and Robert H. Lurie Children’s Hospital, 225 E. Chicago Ave, Box No. 45, Chicago, IL, 60611, USA
  • 刊物主题:Pediatrics; Pediatric Surgery; Maternal and Child Health; Intensive / Critical Care Medicine; Surgery; Imaging / Radiology;
  • 出版者:Springer Berlin Heidelberg
  • ISSN:1867-0687
文摘
Background Rare mutations in surfactant-associated genes contribute to neonatal respiratory distress syndrome. The frequency of mutations in these genes in the Chinese population is unknown.

© 2004-2018 中国地质图书馆版权所有 京ICP备05064691号 京公网安备11010802017129号

地址:北京市海淀区学院路29号 邮编:100083

电话:办公室:(+86 10)66554848;文献借阅、咨询服务、科技查新:66554700