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目的探讨SP-C基因外显子5(exon5)区域基因突变与早产儿呼吸窘迫综合征(RDS)的相关性。方法选择2013年1月至2015年1月在我院新生儿病房住院治疗、无血缘关系的汉族RDS早产儿(28周≤胎龄<37周)作为病例组,选择同时间、同民族和同群体中,无血缘关系未发生RDS的早产儿为对照组。采集患儿静脉血,采用基因测序方法对SP-C基因exon5区域基因进行测序。结果病例组60例,检测出SP-C基因exon5区域c.715G>A位点杂合突变17例(28.3%);对照组60例,检出SP-C基因exon5区域c.715G>A位点杂合突变8例(13.3%),组间比较差异有统计学意义(χ~2=4.093,P=0.043)。病例组有、无c.715G>A位点杂合突变患儿在RDS临床分度、氧疗、肺表面活性物质治疗剂量、治疗结局上比较,差异均无统计学意义(P>0.05)。结论 SP-C基因exon5区域c.715G>A位点杂合突变可能与早产儿RDS发生有关。
Objective To investigate the relationship between gene mutation in exon5 of SP-C gene and respiratory distress syndrome (RDS) in preterm infants. Methods From January 2013 to January 2015 in our hospital neonatal ward hospitalized, unrelated Han RDS preterm children (28 weeks ≤ gestational age <37 weeks) as a case group, select the same time, with the same ethnic groups Among the cohorts, preterm infants with no unrelated RDS were control subjects. The venous blood of children was collected and the exon5 gene of SP-C gene was sequenced by gene sequencing method. Results Sixty cases were detected and 17 (28.3%) cases of heterozygous mutation of c.715G> A in exon5 of SP-C gene were detected. In control group, 60 cases of c-715G> A were detected in exon5 of SP-C gene There were 8 cases (13.3%) of heterozygous heterozygous mutation in the group. The difference between the two groups was statistically significant (χ ~ 2 = 4.093, P = 0.043). There was no significant difference between the case group and the children without heterozygous mutation at c.715G> A locus in RDS clinical classification, oxygen therapy, therapeutic dose of lung surfactant, and therapeutic outcome (P> 0.05). Conclusion The heterozygous mutation of c.715G> A in exon5 of SP-C gene may be related to the occurrence of RDS in preterm infants.