Pulmonary surfactant associated gene variants in mixed ethnic population of Han and Zhuang / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 843-846, 2012.
Article
en Zh
| WPRIM
| ID: wpr-348525
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore the prevalence of pulmonary surfactant associated pathway genes functional variants in Chinese population.</p><p><b>METHOD</b>Using a cohort of 258 mixed ethnic population of Han and Zhuang, we pooled DNA samples from 146 term male infants and 112 term female infants and then used an Ill umina next generation sequencing platform to perform the complete exonic resequencing in 6 target genessurfactant protein-B (SFTPB), surfactant protein-C (SFTPC), ATP-binding cassette transporter A3 (ABCA3), lysophospholipid acyltransferase 1 (LPCAT1), choline phosphotransferase 1 (CHPT1), phosphate cytidylyltransferase 1, choline, beta (PCYT1B). Collapsing methods was used to determine the functional allele frequency.</p><p><b>RESULT</b>(1) Altogether, 128 variants were found, including 44 synonymous variants, 66 nonsynonymous variants and 18 insertions-deletions. Of these, 28 variants were predicted to alter protein function. Two of these variants were seen twice, the rest variants were only seen once, for a total of 30 functional alleles; (2) ABCA3 had the most functional variants in both male and female groups with the minor allele frequencies of 0.014 (1.4%) and 0.04 (4%), respectively. The total functional allele frequencies of 6 genes were 0.041 (4.1%) and 0.08 (8%) in the two groups, respectively (P = 0.06).</p><p><b>CONCLUSION</b>(1) Functional variants in pulmonary surfactant associated pathway genes are present in the mixed Han-Zhuang population. (2) ABCA3 contained the most functional variants suggesting that ABCA3 could contribute significantly to neonatal respiratory distress syndrome and other lung disease.</p>
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Síndrome de Dificultad Respiratoria del Recién Nacido
/
Variación Genética
/
China
/
Transportadoras de Casetes de Unión a ATP
/
Predisposición Genética a la Enfermedad
/
Proteína C Asociada a Surfactante Pulmonar
/
Proteínas Asociadas a Surfactante Pulmonar
/
Pueblo Asiatico
/
Etnología
/
Estudios de Asociación Genética
Límite:
Female
/
Humans
/
Male
/
Newborn
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Pediatrics
Año:
2012
Tipo del documento:
Article