ABCA3基因变异与新生儿呼吸窘迫综合症的相关性研究
发布时间：2018-12-11 00:03
【摘要】：目的：研究ATP结合盒转运蛋白A3(ABCA3)基因第22外显子突变情况,初步探讨ABCA3变异与新生儿呼吸窘迫综合症(NRDS)的关系,从基因水平探讨NRDS的发病机制。 方法：收集2010年3月到2012年3月广西医科大学第一附属医院、广西壮族自治区妇幼保健院、南宁市妇幼保健院、广西壮族自治区民族医院4家医院新生儿科住院的NRDS的患儿52例作为病例组,52例无NRDS新生儿作为对照组。采用试剂盒法提取外周血细胞基因组DNA,经聚合酶链反应(PCR)扩增ABCA3基因第22外显子,将扩增产物直接测序并分析比较两组的变异情况。 结果：(1)在病例组发现3例1033编码位点单个碱基GA的杂合突变(3097A/G),密码子GGA变成AGA,第1033编码位点由甘氨酸变成精氨酸(G1033R),对照组未发现变异。(2)病例组遗传平衡检验P0.05,基因型频率符合Hardy-Weinberg平衡,研究对象具有良好的群体代表性。(3)病例组和对照组GG, GA两种基因型频率分别为94.23%,5.77%和100%,0%,具有GA基因型者发生NRDS的危险性增加,OR值为1.061(95%CI：0.992-1.135),未检测出AA基因型；G和A两种等位基因频率在病例组和对照组为97.12%,2.88%和100%,0%,具有A等位基因者发生NRDS的危险性增加,OR值为1.030(95%CI：0.996-1.064)。 结论：ABCA3G1033R变异可能与NRDS相关,ABCA3G1033RA等位基因可能是NRDS的一个危险因素。
[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.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R722.1
本文编号：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.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R722.1
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