吉林省遗传性耳聋家系库的建立

发布时间：2018-01-21 05:00

本文关键词： 遗传家系耳聋地区分布资料库　出处：《吉林大学》2011年硕士论文　论文类型：学位论文

【摘要】：研究目的: 建立一个吉林省遗传性耳聋家系资料库,初步分析已收集家系的地区分布情况、遗传方式、听力学特点及已检测基因变异家系的基因异常特点。明确遗传性耳聋家系资料库建立的意义:1.为科研工作积累第一手资料; 2.为临床上追踪家系成员的听力变化,指导其婚配、生育、听力补偿办法及家系新成员资料的收集奠定基础。研究方法: 1.将已收集的吉林省内61个耳聋家系建立一个遗传性耳聋家系资料库,内容包括:(1)家系的一般资料:家系编号、成员姓名、性别、出生年月日、现住址、身份证号码等;(2)应用Cyrillic 2.1软件绘制家系图谱,并录入资料库;(3)部分家系成员的听力检查结果;(4)部分家系的基因变异检测结果; 2.分析资料库中耳聋家系在吉林省内的地区分布情况; 3.分析资料库中耳聋家系的遗传方式特点。研究结果: 1.制作了一个软件系统,在这个系统中可轻松查到61个遗传性耳聋家系的现有资料,包括其一般情况、家系图谱、听力检查及基因检测结果等; 2.绘制了现有家系在吉林省内的地区分布情况,目前所收集61个耳聋家系主要集中在吉林省中部地区,以长春市为中心向周围11个市12个县发散分布。 3.现有61个耳聋家系,其中30个耳聋家系(家系WH02～家系WH07、家系WH09～家系WH16、家系WH24、家系WH26、家系WH27、家系WH29、家系WH37、家系WH40、家系WH42、家系WH47、家系WH50、家系WH52～家系WH55、家系WH58～家系WH60)符合典型的常染色体显性遗传方式的系谱图表现特点,7个耳聋家系(家系WH17～家系WH23)符合常染色体隐性遗传方式的系谱图特点,3个耳聋家系(家系WH08、家系WH41、家系WH61)符合X-连锁遗传方式的系谱图特点。余21个耳聋家系(家系WH01、家系WH25、家系WH28、家系WH30～家系WH36、家系WH38、家系WH39、家系WH43～家系WH46、家系WH48、家系WH49、家系WH51、家系WH56、家系WH57),以目前调查,其家系图未呈现典型的遗传学特征。结论: 1.建立了一个吉林省遗传性耳聋的家系库,初步分析现有61个耳聋家系分布在吉林省内的11个市12个县,其遗传方式多为常染色显性遗传,已检测基因变异家系中以GJB2基因突变占多数,家系成员重度耳聋者所占测试人数的比例最大。 2.我们需要做的下一步工作包括:(1)进一步完善现有家系资料;(2)收集更多的遗传性耳聋家系;(3)追踪家系成员听力变化,指导其婚配、生育及提供听力补偿方法;(4)确定耳聋家系的基因变异。
[Abstract]:Objectives of the study: To establish a family database of hereditary deafness in Jilin Province and analyze the regional distribution and genetic pattern of the collected families. The characteristics of audiology and the characteristics of abnormal genes in families with detected genetic variation. The significance of establishing a family database for hereditary deafness was determined. 1. To accumulate first-hand data for scientific research. 2. It lays the foundation for clinical tracing the hearing changes of family members, guiding their marriage, childbearing, hearing compensation and data collection of new family members. Research methods: 1. The 61 deafness families in Jilin Province have been collected to establish a database of hereditary deafness families, which includes the general data of the families: family number, member name, sex, date of birth. Current address, ID number, etc. (2) using Cyrillic 2.1 software to draw pedigree map and input into database; 3) hearing test results of some family members; (4) the results of gene mutation detection in some families; 2. Analyze the regional distribution of deafness families in Jilin Province. 3. To analyze the genetic characteristics of deafness families in the database. Results of the study: 1. A software system has been developed in which existing information on 61 families with hereditary deafness can be easily found, including its general situation, family maps, hearing tests and genetic testing results; 2. The regional distribution of existing families in Jilin Province was plotted. The 61 deafness families collected at present were mainly concentrated in the central region of Jilin Province. Changchun City as the center to the surrounding 11 cities 12 counties diverging distribution. 3. There are 61 deafness families, including 30 deaf families (WH02 ~ WH07, WH09 ~ WH16, WH24, WH26). WH27, WH29, WH37, WH40, WH42, WH47, WH50, WH52 ~ WH55. Family WH58 ~ family WH60) is consistent with the pedigree characteristics of typical autosomal dominant inheritance pattern. 7 deafness families (WH17 ~ WH23) accorded with the pedigree characteristics of autosomal recessive inheritance, and 3 deafness families (WH08, WH41). The pedigree of WH61was in accordance with the pedigree characteristics of X- linkage inheritance. The remaining 21 deaf families (family WH01, family WH25, family WH28, family WH30 ~ family WH36). Family WH38, pedigree WH39, pedigree WH43~ family WH46, family WH48, family WH49, family WH51, family WH56, pedigree WH57, with current investigation. The family map did not show typical genetic characteristics. Conclusion: 1. A pedigree bank of hereditary deafness in Jilin Province was established, and 61 deafness families were analyzed in 11 cities and 12 counties in Jilin Province. GJB2 gene mutation was the most common gene mutation in the tested families, and the proportion of family members with severe deafness was the largest. 2. The next step we need to do is to further improve the existing family data. (2) collecting more hereditary deafness families; (3) to track the hearing changes of family members, to guide their marriage, to give birth and to provide the methods of hearing compensation; To determine the genetic variation in the deafness pedigree.
【学位授予单位】：吉林大学
【学位级别】：硕士
【学位授予年份】：2011
【分类号】：R764.43

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