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目的:分析广西地区23个非综合征型耳聋家系耳聋基因的突变特点,了解广西地区该疾病的分子流行病学特点。方法:研究对象为广西地区23个非综合征型耳聋家系中的患者及其血缘家属共66例(家系组),另取散发NSHL患者及血缘亲属共167例作为对照组,用遗传性耳聋基因芯片联合DNA测序方法检测及分析家系组先证者、耳聋者、正常听力者的常见耳聋基因突变情况,分析广西地区可能的多发位点及罕见位点。结果:家系组常见耳聋基因突变率(31.82%)高于对照组(11.38%),其中GJB2突变21.21%,SLC26A4突变9.09%均高于对照组(GJB2 5.99%、SLC26A4 3.59%)。耳聋家系的先证者、耳聋患者、听力正常的亲属耳聋基因检出率均高于对照组(均<0.05)。进行常见耳聋基因全序列分析的家系中检测到SLC26A4IVS11+47T﹥C、1548insC和GJB2 235delC/109A>G 3个罕见的突变位点。结论:GJB2和SLC26A4是广西地区非综合征型耳聋家系最常见的突变基因,家系分析有助于判断突变与疾病的关系。
Objective: To analyze the mutation characteristics of deafness gene in 23 non-syndromic deafness families in Guangxi and to understand the molecular epidemiological characteristics of this disease in Guangxi. Methods: Totally 66 patients (pedigree) from 23 non-syndromic deaf families and their relatives in Guangxi were enrolled. A total of 167 NSHL patients and their relatives were enrolled in this study. The hereditary deafness gene Chip DNA sequencing method to detect and analyze the family members of probands, deaf and normal hearing persons common deafness gene mutations, analysis of possible multiple sites and rare sites in Guangxi. Results: The prevalence of common deafness gene mutation in familial group was higher than that in control group (31.82%). The GJB2 mutation was 21.21% and the SLC26A4 mutation was 9.09% higher than that of control group (GJB2 5.99%, SLC26A4 3.59%). Deafness families of probands, deaf patients, hearing-normal relatives deafness gene detection rate was higher than the control group (all <0.05). Three rare mutations of SLC26A4IVS11 + 47T> C, 1548insC, and 235J1C / 109A> G of GJB2 were detected in pedigrees with complete sequence analysis of common deafness genes. Conclusion: GJB2 and SLC26A4 are the most common mutational genes in nonsyndromic deafness families in Guangxi. Pedigree analysis can help to determine the relationship between mutations and diseases.