上海交通大学学报（医学版）

上海交通大学学报（医学版）

• 论著（临床研究） • 上一篇    下一篇

慢性肉芽肿病高危儿产前诊断研究

田 雯1,2，蒋利萍1，舒 岚1，刘 玮1，张璐颖1，赵晓东1   

  1. 1.重庆医科大学附属儿童医院临床免疫研究室， 儿童发育疾病研究教育部重点实验室， 儿科学重庆市重点实验室， 重庆市（儿童发育重大疾病诊治与预防）国际科技合作基地， 重庆 400014； 2.成都市第三人民医院儿科， 成都 610031
  • 出版日期:2014-04-28 发布日期:2014-05-13
  • 通讯作者: 蒋利萍, 电子信箱: jianglp2005@126.com。
  • 作者简介:田 雯(1986—)， 女， 硕士， 住院医师; 电子信箱: vinson_1123@163.com。
  • 基金资助:

    重庆市卫生局医学科研重点项目（2012-1-048）；重庆市渝中区科技服务民生项目（20110313）

Study on prenatal diagnosis of high-risk fetuses with chronic granulomatous disease

TIAN Wen1,2, JIANG Li-ping1, SHU Lan1, LIU Wei1, ZHANG Lu-ying1, ZHAO Xiao-dong1   

  1. 1.Laboratory of Clinical Immunology, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing 400014, China; 2.Department of Pediatrics, the Third People's Hospital, Chengdu 610031, China
  • Online:2014-04-28 Published:2014-05-13
  • Supported by:

    Foundation of the Municipal Health Bureau of Chongqing, 2012-1-048; Science and Technology Servicing People's Livelihood Project of Yuzhong District of Chongqing, 20110313

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摘要：

目的 探讨羊水脱落细胞基因分析及宫内胎儿脐血中性粒细胞呼吸爆发试验在慢性肉芽肿病（CGD）高危儿产前诊断中的应用价值。方法 对重庆医科大学附属儿童医院基因分析确诊的6例CGD患儿[5例X连锁CGD （X-CGD），1例常染色体隐性遗传CGD （AR-CGD）]家系中8例高危儿经羊膜腔穿刺抽取羊水，提取羊水脱落细胞RNA和DNA，经PCR扩增、测序分析CYBB或CYBA基因；其中2例高危儿在B超引导下，经皮采集胎儿脐血，采用流式细胞术检测中性粒细胞呼吸爆发功能，对上述基因进行分析。结果 羊水脱落细胞CYBB、CYBA基因分析结果显示：在5例X-CGD患儿家系的7例高危儿中,1例为正常女性胎儿，2例女性胎儿突变基因携带情况不明确，1例为正常男性胎儿，2例为X-CGD男性胎儿，1例为可疑X-CGD男性胎儿；1例AR-CGD患儿家系中的高危儿为可疑AR-CGD女性胎儿。上述2例可疑CGD胎儿脐血中性粒细胞呼吸爆发功能均异常低下，脐血基因分析验证1例为X-CGD男性胎儿，1例为AR-CGD女性胎儿。4例正常胎儿顺利出生，4例CGD胎儿行人工流产术。结论 羊水脱落细胞基因分析与宫内胎儿脐血中性粒细胞呼吸爆发试验相结合，可为CGD高危儿提供可靠的产前诊断。

关键词: 羊水脱落细胞, 胎儿脐血, 基因分析, 呼吸爆发试验, 慢性肉芽肿病

Abstract:

Objective To investigate the value of gene analysis of amniotic fluid exfoliated cells and the neutrophil respiratory burst assay of embryo cord blood in prenatal diagnosis of high-risk fetuses with chronic granulomatous disease (CGD). Methods Six patients with CGD who were diagnosed by the Children's Hospital of Chongqing Medical University through the gene analysis were selected, including five cases of X-linked CGD (X-CGD) and one case of autosomal recessive CGD (AR-CGD). Eight samples of amniotic fluid were obtained by the amniocentesis for eight high-risk fetuses in six pedigrees. The RNA and DNA of amniotic fluid exfoliated cells were extracted. CYBB and CYBA genes were amplified by the polymerase chain reaction (PCR) and the sequencing was performed on the PCR products. Embryo blood samples were collected from two high-risk fetuses by percutaneous umbilical blood sampling. Neutrophil respiratory burst assays were conducted by the flow cytometry and the analysis of above genes was performed. Results The analytical results of CYBB and CYBA genes of amniotic fluid exfoliated cells showed that among seven cases of five X-CGD pedigrees, one female fetus and one male fetus were normal; mutated genes carried by two female fetuses were unidentified; two male fetuses were X-CGD patients; one male fetus was suspicious X-CGD patient; and one female fetus of one AR-CGD pedigree was suspicious AR-CGD patient. The respiratory burst function of neutrophil in embryo cord blood samples of the two suspicious CGD fetuses was very low. The genes analysis of above two embryo cord blood samples identified one X-CGD male fetus and one AR-CGD female fetus. Four healthy fetuses were delivered smoothly and four CGD fetuses were artificially aborted. Conclusion The gene analysis of amniotic fluid exfoliated cells combined with the respiratory burst assay of neutrophil in embryo cord blood can provide reliable prenatal diagnosis for high-risk fetuses with CGD.

Key words: amniotic fluid exfoliated cells, embryo cord blood, gene analysis, respiratory burst assay, chronic granulomatous disease