CAJ | 학술논문

目的：为了解河北地区耳聋人群中常见耳聋基因的突变频率及突变类型。方法河北地区选择冀州市和巨鹿县耳聋患者36例，并采用耳聋基因芯片检测。结果36例患者中，筛查出基因突变13例，总的突变检出率为36.11%。纯合突变检出率13.89%，杂合突变检出率25.0%。冀州市总的突变检出率为36.0%。突变类型以SLC26A4 IVS7-2A>G为主。巨鹿县总的突变检出率为35.29%。主要是GJB2235delC和299delAT杂合突变。结论河北省两地区遗传性耳聋基因突变率较高，基因突变类型存在明显的地区差异。耳聋基因芯片有对常见耳聋相关基因突变检出率高，快速、准确等特点，适合婚前孕前应用，可有效地预防聋儿发生。
목적：위료해하북지구이롱인군중상견이롱기인적돌변빈솔급돌변류형。방법하북지구선택기주시화거록현이롱환자36례，병채용이롱기인심편검측。결과36례환자중，사사출기인돌변13례，총적돌변검출솔위36.11%。순합돌변검출솔13.89%，잡합돌변검출솔25.0%。기주시총적돌변검출솔위36.0%。돌변류형이SLC26A4 IVS7-2A>G위주。거록현총적돌변검출솔위35.29%。주요시GJB2235delC화299delAT잡합돌변。결론하북성량지구유전성이롱기인돌변솔교고，기인돌변류형존재명현적지구차이。이롱기인심편유대상견이롱상관기인돌변검출솔고，쾌속、준학등특점，괄합혼전잉전응용，가유효지예방롱인발생。
Objective tTo study the frequency and type of common gene mutation among the deaf population in Hebei Province. Methods Thirty six deafness patients from Jizhou city and Julu County, Hebei Province, were tested using deafness gene chips. Results Of the 36 patients, 13 (36.11%) showed gene mutation. Detection rate of homozygous and heterozygous mu-tation was 13.89%and 25.0%, respectively. The total detection rate in Jizhou city was 36.0%, mainly the SLC26A4 IVS7-2A>G mutation. The total detection rates in Julu County was 35.29%, including heterozygous mutations of GJB2 235delC and 299delAT. Conclusions The incidence of genetic deafness appears to be relatively high in Hebei providence, probably with some regional differences in mutation types. Detection of the common deafness gene mutations with deafness gene chips is a fast and accurate, and suitable for application during premarital consultation and pregnancy to reduce the occurrence of deaf children.