摘要
目的采用基因芯片技术及全外显子检测技术,对妊娠中期羊水过少的病因进行遗传学分析。方法收集2015年9月-2017年12月我院收治的妊娠中期羊水过少病例15例,进行染色体微阵列分析(chromosomal microarray analysis,CMA)和(或)全外显子组基因检测(whole exome sequencing,WES),对查找到的可疑基因突变位点进行家系验证。结果 1)15例胎儿进行了CMA检测,均未发现异常;2)12例胎儿进行WES检测,10例未发现可疑致病基因,2例发现可疑致病基因;3)1例ACE基因c.1631T>C(p.L544P)和c.3070-3071del CT(p.L1024Lfs*17)复合杂合突变,相关疾病为肾小管发育不良(renal tubular dysgenesis,RTD);4)1例ANKS6 c.2394+1G>A(IVS13)、c.621(exon2)_c.622(exon2)ins TGGTG复合杂合突变,相关疾病为肾消耗病16型(nephronophthisis-16,NPHP16)。结论染色体微缺失重复与孕中期羊水过少未见相关性,CMA不是孕中期羊水过少必需的检查项目;部分妊娠中期羊水过少是由常染色体隐性遗传病引起,全外显子检测有助于明确病因,指导再次妊娠。
Objective To analyze the causes of oligohydramnios in the second trimester using gene chip technology and whole exon detection technology. Methods Fifteen cases with oligohydramnios in the middle trimester of pregnancy admitted to our hospital from September 2015 to December 2017 were enrolled in our study. Then chromosomal microarray analysis（CMA） and/or Whole exome sequencing（WES） were applied to find out suspected gene mutation sites. Results Fifteen fetuses were examined by CMA and no abnormalities was found. WES was applied in 12 fetuses, and 10 cases had no suspicious genes, while 2 cases had suspicious genes. Of the 2 cases, 1 case had ACE gene c.1631 T C（p.L544 P） and c.3070-3071 del CT（p.L1024 Lfs＊17） complex heterozygous mutation, and its related disease was renal tubule dysplasia（RTD）; 1 case had ANKS6 c.2394＋1 G A（IVS13）, c.621（Exon2） _c.622（Exon2） ins TGGTG complex heterozygosity, and its related disease was type 16 of renal wasting disease（Nephronophthisis-16, NPHP16）. Conclusion There is no correlation between duplication of chromosome microdeletion and oligohydramnios in the middle trimester of pregnancy, and CMA is unnecessary in the middle period of pregnancy when oligohydramnios is found. Oligohydramnios in the middle of pregnancy may be caused by autosomal recessive hereditary disease, and exon detection is helpful in clarify the disease causes and guiding repregnancy.
作者
李晓青
王利群
刘晋红
游艳琴
周红辉
张蔓丽
张鑫悦
卢彦平
LI Xiaoqing;WANG Liqun;LIU Jinhong;YOU Yanqin;ZHOU Honghui;ZHANG Manli;ZHANG Xinyue;LU Yanping(Department of Obstetrics and Gynecology;Department of Pathology Chinese PLA General Hospital,Beijing 100853,China)
出处
《解放军医学院学报》
CAS
2018年第8期713-718,共6页
Academic Journal of Chinese PLA Medical School
