ABCA3基因變異與新生兒呼吸窘迫綜合癥的相關(guān)性研究
發(fā)布時(shí)間：2018-12-11 00:03
【摘要】：目的：研究ATP結(jié)合盒轉(zhuǎn)運(yùn)蛋白A3(ABCA3)基因第22外顯子突變情況,初步探討ABCA3變異與新生兒呼吸窘迫綜合癥(NRDS)的關(guān)系,從基因水平探討NRDS的發(fā)病機(jī)制。 方法：收集2010年3月到2012年3月廣西醫(yī)科大學(xué)第一附屬醫(yī)院、廣西壯族自治區(qū)婦幼保健院、南寧市婦幼保健院、廣西壯族自治區(qū)民族醫(yī)院4家醫(yī)院新生兒科住院的NRDS的患兒52例作為病例組,52例無(wú)NRDS新生兒作為對(duì)照組。采用試劑盒法提取外周血細(xì)胞基因組DNA,經(jīng)聚合酶鏈反應(yīng)(PCR)擴(kuò)增ABCA3基因第22外顯子,將擴(kuò)增產(chǎn)物直接測(cè)序并分析比較兩組的變異情況。 結(jié)果：(1)在病例組發(fā)現(xiàn)3例1033編碼位點(diǎn)單個(gè)堿基GA的雜合突變(3097A/G),密碼子GGA變成AGA,第1033編碼位點(diǎn)由甘氨酸變成精氨酸(G1033R),對(duì)照組未發(fā)現(xiàn)變異。(2)病例組遺傳平衡檢驗(yàn)P0.05,基因型頻率符合Hardy-Weinberg平衡,研究對(duì)象具有良好的群體代表性。(3)病例組和對(duì)照組GG, GA兩種基因型頻率分別為94.23%,5.77%和100%,0%,具有GA基因型者發(fā)生NRDS的危險(xiǎn)性增加,OR值為1.061(95%CI：0.992-1.135),未檢測(cè)出AA基因型；G和A兩種等位基因頻率在病例組和對(duì)照組為97.12%,2.88%和100%,0%,具有A等位基因者發(fā)生NRDS的危險(xiǎn)性增加,OR值為1.030(95%CI：0.996-1.064)。 結(jié)論：ABCA3G1033R變異可能與NRDS相關(guān),ABCA3G1033RA等位基因可能是NRDS的一個(gè)危險(xiǎn)因素。
[Abstract]:Objective: to study the mutation of exon 22 of ATP binding cassette transporter A3 (ABCA3) gene, to explore the relationship between ABCA3 mutation and (NRDS) in neonatal respiratory distress syndrome, and to explore the pathogenesis of NRDS at gene level. Methods: from March 2010 to March 2012, the first affiliated Hospital of Guangxi Medical University, the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous region, and the Maternal and Child Health Hospital of Nanning City were collected. 52 cases of NRDS in pediatrics of 4 hospitals of Guangxi Zhuang Autonomous region nationality Hospital were used as case group and 52 cases of newborns without NRDS as control group. Exon 22 of ABCA3 gene was amplified by polymerase chain reaction (PCR) from peripheral blood cell genomic DNA, extracted by kit method. The amplified products were sequenced directly and the variation of the two groups was analyzed and compared. Results: (1) the heterozygous mutation (3097A/G) of single base GA at 1033 coding site was found in 3 cases, and the codon GGA changed from glycine to arginine (G1033R) at the 1033 coding site of AGA,. No variation was found in the control group. (2) the genetic balance test (P0.05) of the case group showed that the genotype frequency was in line with the Hardy-Weinberg balance. (3) the GG, of the case group and the control group were well represented. The frequencies of GA genotypes were 94.23% and 100%, respectively. The risk of NRDS was increased in those with GA genotype, and the OR value was 1.061 (95%CI:0.992-1.135). No AA genotype was detected. The frequencies of G and A alleles were 97.122.88% and 100% in the case group and control group respectively. The risk of NRDS was increased in the patients with A allele, and the OR value was 1.030 (95%CI:0.996-1.064). Conclusion: ABCA3G1033R mutation may be associated with NRDS and ABCA3G1033RA allele may be a risk factor for NRDS.
【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R722.1
本文編號(hào)：2371465
[Abstract]:Objective: to study the mutation of exon 22 of ATP binding cassette transporter A3 (ABCA3) gene, to explore the relationship between ABCA3 mutation and (NRDS) in neonatal respiratory distress syndrome, and to explore the pathogenesis of NRDS at gene level. Methods: from March 2010 to March 2012, the first affiliated Hospital of Guangxi Medical University, the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous region, and the Maternal and Child Health Hospital of Nanning City were collected. 52 cases of NRDS in pediatrics of 4 hospitals of Guangxi Zhuang Autonomous region nationality Hospital were used as case group and 52 cases of newborns without NRDS as control group. Exon 22 of ABCA3 gene was amplified by polymerase chain reaction (PCR) from peripheral blood cell genomic DNA, extracted by kit method. The amplified products were sequenced directly and the variation of the two groups was analyzed and compared. Results: (1) the heterozygous mutation (3097A/G) of single base GA at 1033 coding site was found in 3 cases, and the codon GGA changed from glycine to arginine (G1033R) at the 1033 coding site of AGA,. No variation was found in the control group. (2) the genetic balance test (P0.05) of the case group showed that the genotype frequency was in line with the Hardy-Weinberg balance. (3) the GG, of the case group and the control group were well represented. The frequencies of GA genotypes were 94.23% and 100%, respectively. The risk of NRDS was increased in those with GA genotype, and the OR value was 1.061 (95%CI:0.992-1.135). No AA genotype was detected. The frequencies of G and A alleles were 97.122.88% and 100% in the case group and control group respectively. The risk of NRDS was increased in the patients with A allele, and the OR value was 1.030 (95%CI:0.996-1.064). Conclusion: ABCA3G1033R mutation may be associated with NRDS and ABCA3G1033RA allele may be a risk factor for NRDS.
【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2012
【分類號(hào)】：R722.1
【參考文獻(xiàn)】
相關(guān)期刊論文 前4條
1 翟亮;吳紅敏;魏克倫;趙詩(shī)萌;姜紅;;新生兒呼吸窘迫綜合征SP-A基因多態(tài)性的研究[J];中國(guó)當(dāng)代兒科雜志;2008年03期
2 馬小靜;徐永萍;;ATP連接盒轉(zhuǎn)運(yùn)子A3的研究進(jìn)展[J];國(guó)際婦產(chǎn)科學(xué)雜志;2009年05期
3 劉相;劉曉東;;ABC家族轉(zhuǎn)運(yùn)體與糖尿病[J];中國(guó)臨床藥理學(xué)與治療學(xué);2009年12期
4 李高鵬;葉露;陳孝平;;多種功能的蛋白超家族——ABC家族[J];中國(guó)普通外科雜志;2007年06期
相關(guān)博士學(xué)位論文 前1條
1 李艷紅;ABC轉(zhuǎn)運(yùn)蛋白超家族中致病性SNPs的研究[D];中國(guó)科學(xué)院研究生院（大連化學(xué)物理研究所）;2007年
，本文編號(hào)：2371465
本文鏈接：http://sikaile.net/yixuelunwen/eklw/2371465.html
最近更新
教材專著
