PAX6基因突变的鉴定与中国家系无虹膜症合并妊娠期糖尿病的产前诊断  

Mutation identification of PAX6 and prenatal diagnosis in a Chinese family with Aniridia and gestational diabetes

作　　者：董世栖 董素芳 乔晨 胡波[4] 郑芳[5] 严明[1] Shi-Qi Dong;Su-Fang Dong;Chen Qiao;Bo Hu;Fang Zheng;Ming Yan(Department of Ophthalmology,Zhongnan Hospital of Wuhan University,Wuhan 430071,Hubei Province,China;School of Tropical Medicine&Laboratory Science,Hainan Medical University,Haikou 571199,Hainan Province,China;Wuhan Aier Ophthalmology Hankou Hospital,Wuhan 430000,Hubei Province,China;Department of Laboratory Medicine,the Third Affiliated Hospital of Sun Yat-sen University,Guangzhou 510630,Guangdong Province,China;Center for Gene Diagnosis,Zhongnan Hospital of Wuhan University,Wuhan 430071,Hubei Province,China)

机构地区：[1]武汉大学中南医院眼科,中国湖北省武汉市430071 [2]海南医学院热带医学与检验学院,中国海南省海口市571199 [3]武汉爱尔眼科汉口医院,中国湖北省武汉市430000 [4]中山大学第三附属医院检验科,中国广东省广州市510630 [5]武汉大学中南医院基因诊断中心,中国湖北省武汉市430071

出　　处：《国际眼科杂志》2019年第9期1457-1461,共5页International Eye Science

基　　金：National Natural Science Foundation of China(No.81770898)~~

摘　　要：目的:探讨1个中国无虹膜症合并妊娠期糖尿病家系的基因缺陷及产前诊断。方法:收集1个患有无虹膜症合并妊娠期糖尿病的中国家系,从外周血中提取整个家系成员的基因组DNA,通过聚合酶链式反应结合直接测序法,分析人类配对盒基因(PAX6)的编码序列。妊娠18wk时对孕妇进行羊膜穿刺术,并根据突变筛查结果进行遗传学分析。结果:无虹膜患者在PAX6的第5外显子中存在杂合缺失突变(c.113_129del GGCCGTGCGACATTTCC,p.Arg38ProfsTer12),该患者同时合并妊娠期糖尿病,产前诊断结果提示胎儿具有相同的突变,易患先天性无虹膜症,经产后随访证实。结论:在中国先天性无虹膜患者中发现了PAX6基因缺失突变,为人类PAX6等位基因变异数据库提供了更多的文献资料,为产前诊断提供了分析依据。AIM:To explore the genetic defects and prenatal diagnosis of a Chinese family with aniridia and gestational diabetes.METHODS:We recruited a Chinese family with aniridia and gestational diabetes.Genomic DNA of the whole family individuals was extracted from the peripheral blood leukocytes.Encoding regions of the paired box 6(PAX6)gene was screened by PCR direct sequencing.Amniocentesis was carried out on the affected female at 18wk of gestation,and subsequently,genetics analysis was performed based on the result of mutation screening.RESULTS:In this study,the patients with aniridia and congenital cataract carried a heterozygous deletion mutation(c.113_129del GGCCGTGCGACATTTCC,p.Arg38ProfsTer12)in exon 5 of PAX6.One of the patients was affected with diabetes while this lady also had gestational diabetes.The result of prenatal diagnosis suggested the fetus carried the same mutation and will be affected with the aniridia,which was confirmed by postpartum follow-up.CONCLUSION:It was suggested that a reported deletion mutation in the PAX6 was identified again in a Chinese family with aniridia and congenital cataract.It contributed to more literature information for the human PAX6 allelic variant database and provided an analysis basis for prenatal diagnosis.

关 键 词：无虹膜症 突变 PAX6 产前诊断 

分 类 号：R71[医药卫生—妇产科学]