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目的调查新疆乌鲁木齐市聋哑学校重度感音性耳聋分子流行病学情况。方法对194例聋哑学生进行临床资料采集,外周静脉血抽取。血样经DNA提取,进行GJB2 235delC突变、线粒体DNA 12SrRNA A1555G突变的检测。结果194例聋哑学生中,GJB2 235delC纯合突变、235delC杂合突变携带率分别为为5.67%(11/194)、5.67%(11/194),mtDNA A1555G点突变检出率为9.28%(18/194)。GJB2 235delC在汉族、维族、回族聋哑学生中的等位基因频率分别为9.51%(27/284)、6.0%(3/50)、3.13%(1/32);携带mtDNA A1555G点突变的聋哑学生16人为汉族、1人为维族、1人为回族。结论新疆三个主要民族聋哑学生群体中GJB2 235delC、A1555G突变检出率均以汉族最高,但三个民族的突变检出率经统计学比较无显著性差异。新疆地区聋哑学生的GJB2 235delC突变检出率在全国处于较低水平,新疆地区聋哑学生的A1555G突变检出率高。
Objective To investigate the molecular epidemiology of severe deafness-sensitive deafness in deaf-mute schools in Urumqi, Xinjiang. Methods 194 cases of deaf students were collected clinical data, peripheral venous blood extraction. Blood samples were extracted by DNA, and GJB2 235delC mutation and mitochondrial 12SrRNA A1555G mutation were detected. Results 194 cases of deaf and dumb students, GJB2 235delC homozygous mutation, 235delC heterozygous mutation carrying rate were 5.67% (11/194), 5.67% (11/194), mtDNA A1555G point mutation detection rate was 9.28% ( 18/194). The allele frequencies of GJB2 235delC were 9.51% (27/284), 6.0% (3/50) and 3.13% (1/32) in the Han, Uygur and Hui deaf students, respectively. The frequencies of allele A 16 dumb students Han, 1 Uyghur, 1 Hui. Conclusion The detection rates of GJB2 235delC and A1555G mutation in the deaf and dumb student groups of the three major nationalities in Xinjiang are the highest in Han nationality, but there is no significant difference in the mutation detection rate among the three ethnic groups in statistics. The detection rate of GJB2 235delC mutation in deaf-mute students in Xinjiang is low at the national level, and the detection rate of A1555G mutation in deaf-mute students in Xinjiang is high.