[1]江玉刚,耿敏彦.耳聋基因芯片法检测在耳声发射不合格的非综合征型感音神经性耳聋新生儿筛查中的应用价值[J].陕西医学杂志,2021,50(11):1400-1403，1407.[doi:DOI:10.3969/j.issn.1000-7377.2021.11.019]
　JIANG Yugang,GENG Minyan.Application value of deafness gene chip method in screening of nonsyndromic sensorineural deafness in neonates with unqualified otoacoustic emission[J].,2021,50(11):1400-1403，1407.[doi:DOI:10.3969/j.issn.1000-7377.2021.11.019]
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耳聋基因芯片法检测在耳声发射不合格的非综合征型感音神经性耳聋新生儿筛查中的应用价值
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《陕西医学杂志》[ISSN:1000-7377/CN:61-1281/TN]

卷:
50
期数:
2021年11期
页码:
1400-1403，1407
栏目:
临床研究
出版日期:
2021-11-05

文章信息/Info

Title:
Application value of deafness gene chip method in screening of nonsyndromic sensorineural deafness in neonates with unqualified otoacoustic emission
作者:
江玉刚; 耿敏彦
(西安工会医院耳鼻喉科,陕西 西安 710100)
Author(s):
JIANG Yugang; GENG Minyan
(Department of Otorhinolaryngology,Xi'an Union Hospital,Xi'an 710100,China)
关键词:
耳聋基因芯片;  耳声发射不合格;  新生儿;  非综合征型感音神经性耳聋;  GJB2基因;  筛查
Keywords:
Deafness gene chip;  Unqualified otoacoustic emission;  Newborn;  Non-syndromic sensorineural deafness;  GJB2 gene;  Screening
分类号:
R 764.43
DOI:
DOI:10.3969/j.issn.1000-7377.2021.11.019
文献标志码:
A
摘要:
目的:探讨耳聋基因芯片检测在耳声发射不合格的非综合征型感音神经性耳聋新生儿筛查中的应用价值。方法:选择70例耳声发射不合格的非综合征型感音神经性耳聋新生儿为研究对象,采集足跟血3滴,采用耳聋基因芯片法对常见耳聋基因突变进行检测,同时给予酶切或测序法对常见耳聋基因突变进行检测,以验证耳聋基因芯片结果的准确性。结果:①经耳聋基因芯片检测70例患儿的阳性率为50.00%,经酶切或测序法70例患儿的阳性率为54.29%,两种方法检测结果相近。②对176del16、35delG、299-300delAT、235delC的GJB2基因突变位点的芯片点阵,其中测序法分别检出0个、1个、59个、9个; 基因芯片法分别检出等位基因突变0个、1个、57个及9个; 后3个的等位基因突变检出率,测序法与基因芯片法的符合率依次为100%(1/1)、100%(9/9)及96.61%(57/59)。除235delC点位在芯片结果中因肉眼观察被误判为单杂合突变,其余基因芯片检测结果均和酶切或测序法结果一致。③IVS7-2A>G、2168A>G的SLC26A4等位基因突变的芯片点阵,其中酶切或测序法检出等位基因突变6个和27个; 基因芯片法的分别检出等位基因突变6个和27个,测序法与基因芯片法的等位基因突变的符合率为100%(6/6、27/27),两种方法检测结果一致。④随访结果显示,4例mtDNAA155G及23例GJB2基因突变的患儿被称为中度耳聋,11例SLC26A4突变患儿被称为重度耳聋,其余31例耳声发射不合格的新生儿非综合征型感音神经性耳聋患儿被诊断为听力未见异常及1例IVS7-2A>G和299-300delAT双杂合突变者为正常。结论:相比酶切或测序法,耳聋基因芯片法成本低、准确性高、操作简单快速且更具标准化,能满足临床对常见耳聋基因检测需求。
Abstract:
Objective:To evaluate the application value of deafness gene chip in the screening of nonsyndromic sensorineural deafness in neonates with unqualified otoacoustic emission.Methods:70 newborns with nonsyndromic sensorineural deafness who failed to meet the otoacoustic emission were selected as the research objects.3 drops of heel blood was collected.The deafness gene chip method was used to detect common deafness gene mutations,and the enzyme digestion or sequencing method was used to verify the accuracy of the deafness gene chip results.Results:The positive rate of 70 children detected by deafness gene chip was 50.00%,and the positive rate detected by enzyme digestion or sequencing was 54.29%.The chip dot matrix of GJB2 gene mutation sites of 176del16,35delg,299-300delAT and 235delC was analyzed,in which 0,1,59 and 9 were detected by sequencing respectively,and 0,1,57 and 9 allele mutations were detected by microarray.The coincidence rates of sequencing and microarray were 100%(1/1),100%(9/9)and 96.61%(57/59).Except that 235delC was misjudged as a single heterozygous mutation due to naked eye observation in the chip results,the results of other gene chips were consistent with those of enzyme digestion or sequencing.The chip dot matrix of SLC26A4 allele mutation of IVS7-2A>G and 2168a>G,in which 6 and 27 allele mutations were detected by enzyme digestion or sequencing,and there were 6 and 27 allele mutations detected by microarray method,and the coincidence rate between sequencing method and microarray method was 100%(6/6 and 27/27).The detection results of the two methods were consistent.The follow-up results showed that 4 cases of mtDNAA155G and 23 cases of GJB2 gene mutation were called moderate deafness,11 cases of SLC26A4 mutation were called severe deafness,the other 31 cases of neonatal non syndromic sensorineural deafness with unqualified otoacoustic emission were diagnosed as normal hearing,and 1 case of IVS7-2A>G and 299-300delAT double heterozygous mutation was normal.Conclusion:Compared with direct sequencing method and enzyme digestion method,deafness gene chip method has the advantages of low cost,high accuracy,simple,fast operation and more standardization.It can meet the clinical needs for common deafness gene detection.

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备注/Memo

备注/Memo:
基金项目:陕西省重点研发计划项目(2018SF-091)
更新日期/Last Update: 2021-11-05