摘要
目的比较汉族与壮族新生儿耳聋基因溶质载体家族26成员4(SLC26A4)的突变情况。方法选取汉族新生儿2784例(汉族组)、壮族新生儿1305例(壮族组)。分娩时留取新生儿脐带血制作干血片,提取DNA行耳聋基因芯片检测SLC26A4基因突变位点,包括IVS7-2A>G、1229C>T、1174A>T、IVS15+5G>A、2168A>G、1226G>A、1975G>C、2027T>A。比较两组突变基因SLC26A4及突变位点的基因频率。结果壮族组检出SLC26A4基因突变3例,其中IVS7-2A>G杂合子2例、1229C>T杂合子1例;汉族组检出SLC26A4基因突变26例,其中IVS7-2A>G杂合子19例、1229C>T杂合子1例、2168A>G杂合子4例、1174A>T杂合子1例、IVS15+5G>A杂合子1例。均未检出纯合子、复合杂合突变及1226G>A、1975G>C、2027T>A突变。壮族组突变基因SLC26A4以及突变位点IVS7-2A>G的基因频率均低于汉族组(均P<0.05),但两组突变位点2168A>G、1229C>T、1174A>T、IVS15+5G>A的基因频率差异均无统计学意义(均P>0.05)。结论壮族新生儿的耳聋基因SLC26A4突变热点为IVS7-2A>G、1229C>T,而汉族新生儿突变热点为IVS7-2A>G、2168A>G,且壮族新生儿突变基因SLC26A4及突变位点IVS7-2A>G的基因频率均低于汉族新生儿。
Objective To compare the mutation of deafness gene solute carrier family 26 member 4(SLC26A4) between neonates with Han and Zhuang nationalities.Methods A total of 2784 neonates with Han nationality (Han group) and 1305 neonates with Zhuang nationality(Zhuang group) were selected.Umbilical cord blood of the neonates at delivery was preserved and dried blood spot specimens were made.Then DNA was extracted,and deafness gene chip was used to detect mutant sites of SLC26A4 gene including IVS7-2A>G,1229C>T,1174A>T,IVS15+5G>A,2168A>G,1226G>A,1975G>C and 2027T>A.The gene frequencies of mutant gene SLC26A4 and mutant sites were compared between the two groups.Results SLC26A4 gene mutation was found in 3 cases of the Zhuang group,including 2 with IVS7-2A>G heterozygote and 1 with 1229C>T heterozygote;SLC26A4 gene mutation was found in 26 cases of the Han group,including 19 with IVS7-2A>G heterozygote,1 with 1229C>T heterozygote,4 with 2168A>G heterozygote,1 with 1174A>T heterozygote and 1 with IVS15+5G>A heterozygote.No homozygous or compound heterozygous mutations,or 1226G>A,1975G>C or 2027T>A mutations were found.The gene frequencies of mutant gene SLC26A4 and mutant site IVS7-2A>G in the Zhuang group were lower than those in the Han group (all P <0.05),whereas there were no statistically significant differences in gene frequency of mutant site 2168A>G,1229C>T,1174A>T or IVS15+5G>A between the two groups(all P >0.05).Conclusion The mutation hotspots of deafness gene SLC26A4 in the neonates with Zhuang nationality comprises IVS7-2A>G and 1229C>T,and the hotspots of the neonates with Han nationality include IVS7-2A>G and 2168A>G,moreover,the neonates with Zhuang nationality have lower gene frequencies of mutant gene SLC26A4 and mutant site IVS7-2A>G compared with the neonates with Han nationality.
作者
覃婷
田矛
魏子豫
QIN Ting;TIAN Mao;WEI Zi-yu(Department of Obstetrics,the People′s Hospital of Guangxi Zhuang Autonomous Region,Nanning 530021,China;Clinical Medical School,Capital Medical University,Beijing 100069,China)
出处
《广西医学》
CAS
2019年第18期2341-2343,共3页
Guangxi Medical Journal
基金
广西医药卫生科研课题(Z2015327)
关键词
耳聋
溶质载体家族26成员4基因
突变
基因频率
新生儿
汉族
壮族
Deafness
Solute carrier family 26 member 4 gene
Mutation
Gene frequency
Neonates
Han nationality
Zhuang nationality
