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首页> 外文期刊>The journal of maternal-fetal & neonatal medicine >Hearing-loss-associated gene detection in neonatal intensive care unit
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Hearing-loss-associated gene detection in neonatal intensive care unit

机译：新生儿重症监护单元中的听力损失相关基因检测

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摘要

Objective: To investigate the frequency and mutation spectrum of hearing loss-associated gene mutation in Neonatal Intensive Care Unit (NICU).Methods: Neonates (n=2305) admitted to NICU were enrolled in this study. Nine prominent hearing loss-associated genes, GJB2 (35 del G, 176 del 16,235 del C, 299 del AT), GJB3 (538 CT), SLC26A4 (IVS7-2AG, 2168 AG) and mtDNA 12S rRNA(1555 AG, 1494 CT), were detected.Result: There were 73 cases hearing-loss-associated gene mutation among 2305 cases, the mutation frequency was 3.1%, with 40 cases GJB2 (235del C) mutation (54.8%), 6 cases GJB2 (299 del AT) mutation (8.2%), 21 cases SLC26A4 (IVS 7-2 AG) mutation (28.7%), 4 cases SLC26A4 (2168 AG) mutation (5.5%), 2 cases of GJB2 (235del C) combined SLC26A4 (IVS 7-2 AG, 2168 AG) mutation (2.8%). Among 73 gene mutation cases, preterm neonates presented in 18 cases, accounting for 24.7% (18/73); hyperbilirubinemia in 13 cases, accounting for 17.8% (13/73); Torch Syndrome in 15 cases, with 12 cases CMV, 2 cases rubella, 1 case toxoplasm, respectively, totally accounting for 20.54% (15/73); neonatal pneumonia in 12 cases, accounting for 16.4% (12/73); birth asphyxia in 5 cases, accounting for 6.9% (5/73); sepsis in 5 cases, accounting for 6.9% (5/73); others in 5 cases, accounting for 6.8% (5/73) .Conclusions: The frequency of hearing loss-associated gene mutation was higher in NICU.There were hearing loss-associated gene mutations in the NICU, suggesting this mutation may complicate with perinatal high-risk factors.
机译：目的：探讨新生儿重症监护单位（NICU）中听力损失相关基因突变的频率和突变谱。方法：注册了Nicu的新生儿（N = 2305）读入了本研究。九个突出的听力损失相关基因，GJB2（35 del g，176 del 16,235 del c，299 del），gjb3（538 c＆ t），slc26a4（IVs7-2a＆ g，2168a＆ g）和mtdna 12s rRNA （1555A＆ g，1494 c＆ t）被检测到。结果：2305例中有73例听力损失相关的基因突变，突变频率为3.1％，40例GJB2（235℃）突变（54.8 ％），6例GJB2（299 Del）突变（8.2％），21例SLC26A4（IVS 7-2A> G）突变（28.7％），4例SLC26A4（2168A＆ G）突变（5.5％）， 2例GJB2（235Del C）组合SLC26A4（IVS 7-2A＆G，2168A＆GT; G）突变（2.8％）。在73个基因突变病例中，早产儿在18例，占24.7％（18/73）; 13例，占17.8％（13/73）的高胆管血症;火炬综合征15例，12例CMV，2例风疹，1例毒素，分别完全占20.54％（15/73）;新生儿肺炎12例，占16.4％（12/73）;出生窒息5例，占6.9％（5/73）;败血症5例，占6.9％（5/73）;其他5例，占6.8％（5/73）。结论：Nicu的听力损失相关基因突变的频率较高。尼古尔中听证有损失相关的基因突变，表明这种突变可能与围产期复制高风险因素。

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  • 作者

    Yang S. M.; Liu Ying; Liu C.; Yin A. H.; Wu Y. F.; Zheng X. E.; Yang H. M.; Yang J.;

  • 作者单位

    Guangdong Women &

    Children Hosp Dept Neonatol Guangzhou 510010 Guangdong Peoples R China;

    Guangdong Women &

    Children Hosp Dept Neonatol Guangzhou 510010 Guangdong Peoples R China;

    Guangdong Women &

    Children Hosp Prenatal Diag Ctr Guangzhou Guangdong Peoples R China;

    Guangdong Women &

    Children Hosp Prenatal Diag Ctr Guangzhou Guangdong Peoples R China;

    Guangdong Women &

    Children Hosp Dept ENT Guangzhou Guangdong Peoples R China;

    Guangdong Women &

    Children Hosp Dept Neonatol Guangzhou 510010 Guangdong Peoples R China;

    Guangdong Women &

    Children Hosp Dept Neonatol Guangzhou 510010 Guangdong Peoples R China;

    Guangdong Women &

    Children Hosp Dept Neonatol Guangzhou 510010 Guangdong Peoples R China;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 产科学;
  • 关键词

    Hearing-loss; gene; NICU;

    机译：听力损失;基因;尼古尔;

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