摘要
目的探讨三磷酸腺苷结合盒转运子A3(adenosine triphosphate-binding cassette transporters A3,ABCA3)exon10区域基因突变与新生儿呼吸窘迫综合征(respiratory distress syndrome,RDS)的相关性。方法选择2014年9月至2018年1月本院新生儿重症监护病房收治的60例蒙古族RDS新生儿与100例汉族RDS新生儿(RDS组)、60例蒙古族非RDS新生儿与100例汉族非RDS新生儿(对照组)为研究对象,提取各组新生儿基因组DNA,应用聚合酶链反应扩增ABCA3exon10,并对扩增物进行测序,比较RDS组与对照组、蒙古族与汉族新生儿基因型频率和等位基因频率。结果蒙古族和汉族新生儿均存在ABCA3rs13332514(F353F)位点单个碱基点突变C>T,蒙古族RDS组突变率26.7%,对照组突变率18.3%,差异有统计学意义(χ^2=6.316,P=0.043);汉族RDS组突变率21.0%,对照组突变率13.0%,差异有统计学意义(χ^2=7.426,P=0.009);蒙古族RDS组和汉族RDS组突变率比较、蒙古族对照组和汉族对照组突变率比较,差异均无统计学意义(P>0.05)。蒙古族和汉族RDS组均可检出CC、CT和TT3种基因型,对照组均可检出CC和CT2种基因型。蒙古族RDS组T等位基因频率为18.3%,对照组T等位基因频率为9.2%,差异有统计学意义(χ^2=4.251,P=0.039)。汉族RDS组T等位基因频率为15.0%,对照组T等位基因频率为6.5%,差异有统计学意义(χ^2=7.530,P=0.006)。结论ABCA3exon10区域rs13332514(F353F)位点存在单个碱基点突变C>T,可能与内蒙古地区蒙古族和汉族新生儿发生RDS有关,等位基因T可能是RDS的易感基因之一。
Objective To study the relationship between exon10 region mutation of adenosine triphosphate-binding cassette transporters A3 (ABCA3) gene and neonatal respiratory distress syndrome (RDS). Method From September 2014 to January 2018, neonates admitted to the neonatal intensive care unit of our hospital were studied. Mongolian and Han Chinese newborns with RDS were assigned into Mongolian RDS group and Han RDS group. Mongolian and Han Chinese newborns without RDS were assigned into Mongolian control group and Han control group. The genotype frequencies and allele frequencies of ABCA3 exon10 in each group were compared. Result A total of 320 cases were studied, including 60 cases in Mongolian RDS group, 100 cases in Han RDS group, 60 cases in Mongolian control group, and 100 cases in Han control group. A single-base point mutation C>T in the ABCA3 rs13332514 (F353F) locus was founded in both Mongolian and Han Chinese newborns. The mutation rates in Mongolian RDS group and Mongolian control group were 26.7% and 18.3%, and the difference was statistically significant (χ^2=6.316, P=0.043); the mutation rates in Han RDS group and Han control group were 21.0% and 13.0%, the difference was also statistically significant (χ^2=7.426, P=0.009). No significant differences existed between Mongolian RDS group and Han RDS group, and between Mongolian control group and Han control group (P>0.05). The genotypes of CC, CT and TT were detected in both Mongolian and Han RDS groups, and the CC and CT genotypes were also detected in the control group. The T allele frequency was 18.3% in Mongolian RDS group, and 9.2% in Mongolian control group. The difference was statistically significant (χ^2=4.251, P= 0.039). The T allele frequency in Han RDS group was 15.0%, and 6.5% in Han control group. The difference was also statistically significant (χ^2=7.530, P=0.006). Conclusion A single-base point mutation C>T in the rs13332514 (F353F) locus of ABCA3 exon10 may be related to the occurrence of RDS in Mongolian and Han newborns in Inner Mo
作者
梅花
张钰恒
张艳波
宋丹
霍梦月
杜巧燕
王晓磊
Mei Hua;Zhang Yuheng;Zhang Yanbo;Song Dan;Huo Mengyue;Du Qiaoyan;Wang Xiaolei(Department of Neonatology, Affiliated Hospital, Inner Mongolia Medical University, Hohhot 010050, China)
基金
内蒙古自然科学基金项目(2015MS(LH)0810)
内蒙古医科大学附属医院重大科技项目(NYFYZD008)
内蒙古医科大学青年创新基金(YKD2015QNCX040).
关键词
呼吸窘迫综合征
新生儿
基因测定
多态性
单核苷酸
三磷酸腺苷结合盒转运蛋白A3
Respiratory distress syndrome, newborn
Genetic testing
Polymorphism, single nucleotide
Adenosine triphosphate-binding cassette transporters A3
