中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2012年
11期
843-846
,共4页
陈玉君%陈少科%Kelcey DePass%Daniel J.Wegner%Aaron Hamvas%农光民%王亚洲%范歆%罗静思
陳玉君%陳少科%Kelcey DePass%Daniel J.Wegner%Aaron Hamvas%農光民%王亞洲%範歆%囉靜思
진옥군%진소과%Kelcey DePass%Daniel J.Wegner%Aaron Hamvas%농광민%왕아주%범흠%라정사
肺表面活性物质相关蛋白质类%变异(遗传学)%亚洲大陆世系人群%小地区分析%遗传学研究
肺錶麵活性物質相關蛋白質類%變異(遺傳學)%亞洲大陸世繫人群%小地區分析%遺傳學研究
폐표면활성물질상관단백질류%변이(유전학)%아주대륙세계인군%소지구분석%유전학연구
Pulmonary surfactant-associated proteins%Variation (genetics)%Asian continental ancestry group%Small-area analysis%Genetic research
目的 探讨肺表面活性物质相关基因功能性变异在中国人群中的携带情况.方法 以广西壮族自治区南宁市汉族和壮族杂交足月新生儿258例为研究对象,男146例,女112例,提取基因组DNA并按组别混合DNA,以表面活性蛋白B(SFTPB)、表面活性蛋白C(SFTPC)、ATP连接盒转运子A3(ABCA3)、磷脂酰转移酶(LPCAT1)、胆碱磷酸转移酶(CHPT1)、磷酸胆碱胞苷酰转移酶(PCYTIB)为候选基因,应用Illumina第二代测序平台对候选基因进行全外显子深度测序,并应用合并变异的统计分析方法,获取功能性变异的等位基因频率.结果 (1)两组共发现变异128种,其中同义变异44种,非同义变异66种;碱基插入/缺失18种;在这些变异中,有28种为功能性变异,其中有2种变异出现2次,其他变异各出现一次,共有30个功能性变异的等位基因;(2)男女两组均以ABCA3基因出现功能性变异的频率最高,其等位基因频率分别为0.014(1.4％)和0.04(4％);6个候选基因功能性变异的总等位基因频率在男女组分别为0.041 (4.1％)和0.08(8％),P=0.06.结论 (1)汉族和壮族杂交人群携带有肺表面活性物质相关基因的功能性变异;(2)出现变异频率最高的基因为ABCA3,提示该基因变异在新生儿呼吸窘迫综合征及其他肺疾患的发病中发挥着重要的作用.
目的 探討肺錶麵活性物質相關基因功能性變異在中國人群中的攜帶情況.方法 以廣西壯族自治區南寧市漢族和壯族雜交足月新生兒258例為研究對象,男146例,女112例,提取基因組DNA併按組彆混閤DNA,以錶麵活性蛋白B(SFTPB)、錶麵活性蛋白C(SFTPC)、ATP連接盒轉運子A3(ABCA3)、燐脂酰轉移酶(LPCAT1)、膽堿燐痠轉移酶(CHPT1)、燐痠膽堿胞苷酰轉移酶(PCYTIB)為候選基因,應用Illumina第二代測序平檯對候選基因進行全外顯子深度測序,併應用閤併變異的統計分析方法,穫取功能性變異的等位基因頻率.結果 (1)兩組共髮現變異128種,其中同義變異44種,非同義變異66種;堿基插入/缺失18種;在這些變異中,有28種為功能性變異,其中有2種變異齣現2次,其他變異各齣現一次,共有30箇功能性變異的等位基因;(2)男女兩組均以ABCA3基因齣現功能性變異的頻率最高,其等位基因頻率分彆為0.014(1.4％)和0.04(4％);6箇候選基因功能性變異的總等位基因頻率在男女組分彆為0.041 (4.1％)和0.08(8％),P=0.06.結論 (1)漢族和壯族雜交人群攜帶有肺錶麵活性物質相關基因的功能性變異;(2)齣現變異頻率最高的基因為ABCA3,提示該基因變異在新生兒呼吸窘迫綜閤徵及其他肺疾患的髮病中髮揮著重要的作用.
목적 탐토폐표면활성물질상관기인공능성변이재중국인군중적휴대정황.방법 이엄서장족자치구남저시한족화장족잡교족월신생인258례위연구대상,남146례,녀112례,제취기인조DNA병안조별혼합DNA,이표면활성단백B(SFTPB)、표면활성단백C(SFTPC)、ATP련접합전운자A3(ABCA3)、린지선전이매(LPCAT1)、담감린산전이매(CHPT1)、린산담감포감선전이매(PCYTIB)위후선기인,응용Illumina제이대측서평태대후선기인진행전외현자심도측서,병응용합병변이적통계분석방법,획취공능성변이적등위기인빈솔.결과 (1)량조공발현변이128충,기중동의변이44충,비동의변이66충;감기삽입/결실18충;재저사변이중,유28충위공능성변이,기중유2충변이출현2차,기타변이각출현일차,공유30개공능성변이적등위기인;(2)남녀량조균이ABCA3기인출현공능성변이적빈솔최고,기등위기인빈솔분별위0.014(1.4％)화0.04(4％);6개후선기인공능성변이적총등위기인빈솔재남녀조분별위0.041 (4.1％)화0.08(8％),P=0.06.결론 (1)한족화장족잡교인군휴대유폐표면활성물질상관기인적공능성변이;(2)출현변이빈솔최고적기인위ABCA3,제시해기인변이재신생인호흡군박종합정급기타폐질환적발병중발휘착중요적작용.
Objective To explore the prevalence of pulmonary surfactant associated pathway genes functional variants in Chinese population.Method 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 genes:surfactant 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.Result (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).Conclusion (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.
