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目的利用基因筛查方法调查赤峰地区聋哑儿童Pendred综合征(Pendred’s syndrome, PDS)基因(SLC26A4基因)热点突变的发生频率,并通过颞骨CT检查证实基因筛查诊断大前庭水管综合征的可行性。方法调查对象来自赤峰市聋哑学校学生141例。所有受检患者均采集外周血并提取DNA,以序列分析方法检测PDS基因IVS7-2位点的A-G突变情况,发现PDS基因IVS7-2 A-G纯合或杂合突变均回访,进一步行颞骨CT检查以及甲状腺B超和甲状腺功能检查,进行基因筛查结果和颞骨CT检查结果的比较分析。结果PDS外显子7+8序列分析结果显示共有20例聋哑学生具有IVS 7-2 A-G突变。9例为纯合突变,11例为杂合突变。回访时除2例患者因健康原因未进行复查,其余18例聋哑学生接受颞骨CT检查,其中16例患者CT证实为典型的前庭水管扩大。16例患者甲状腺B型超声波显示6例患者甲状腺略大于正常,但无明显临床意义,甲状腺功能检查均未见明显异常。结论通过PDS基因热点突变的筛查可以发现大前庭水管综合征患者,基因筛查是辅助此病诊断的新型手段,此项技术在大规模耳聋患者的病因学筛查方面具有一定的优势。
Objective To investigate the frequency of hot spot mutation in Pendred’s syndrome (PDS) gene in Chifeng district by using gene screening method and to confirm the feasibility of genetic screening for diagnosis of aqueduct syndrome through temporal bone CT . Methods The survey was conducted from 141 deaf-mute students in Chifeng City. All patients were collected peripheral blood and DNA extraction, sequence analysis of PDS gene at the site of IVS7-2 AG mutation found that PDS gene IVS7-2 AG homozygous or heterozygous mutations were re-visit, further bone marrow CT scan As well as thyroid B and thyroid function tests, genetic screening results and temporal bone CT comparative analysis of the results. Results The 7 + 8 PDS exon sequence analysis showed that a total of 20 deaf students had IVS 7-2 A-G mutation. Nine cases were homozygous mutations and 11 cases were heterozygous mutations. At the time of return visit, except for 2 patients who were not reviewed due to health reasons, the remaining 18 deaf-mute students underwent temporal bone CT examination. Among them, CT was confirmed as typical vestibular aqueduct enlargement in 16 patients. Sixteen patients with thyroid B-mode ultrasound showed that the thyroid in 6 patients was slightly larger than normal, but no significant clinical significance, thyroid function tests were no obvious abnormalities. Conclusion Screening of hotspot mutation in PDS gene can find out that gene screening is a new method to diagnose the disease in large vestibular aqueduct syndrome. This technique has some advantages in screening etiology of large-scale deafness patients.