| 唐克峰,沈国松,李志,娄志武.一对大前庭导水管综合征育龄夫妇的遗传咨询研究[J].浙江中西医结合杂志,2019,29(12): |
| 一对大前庭导水管综合征育龄夫妇的遗传咨询研究 |
| Genetic Consultancy Study on a Couples of Reproductive Age with Enlarged Vestibular Aqueduct Syndrome |
| 投稿时间：2019-06-04 修订日期：2019-11-04 |
| DOI： |
| 中文关键词: 大前庭导水管综合征 复合杂合突变 SLC26A4基因 基因型 |
| 英文关键词:Enlarged vestibular aqueduct syndrome Compound heterozygous mutation SLC26A4 gene Genotype |
| 基金项目:浙江省医药卫生科研项目青年人才计划(编号：2019RC287) |
|
| 摘要点击次数: 878 |
| 全文下载次数: 9 |
| 中文摘要: |
| 目的：对1对大前庭导水管综合征育龄夫妇进行SLC26A4基因突变位点分析,研究其突变形式和突变类型，探讨其后代发病风险,指导生育。方法：收集1对大前庭导水管综合征夫妇的临床资料及血样，提取基因组DNA，基于目标区域捕获测序技术检测耳聋基因相关突变。应用高通量测序数据分析流程,利用OMIM等多个临床疾病数据库及CADD等多个有害性预测软件对数据进行生物信息学分析、比对。结果：测序结果提示男方为SLC26A4基因c.230A>T、c.1174A>T和c.1547dupC的复合杂合突变,女方为SLC26A4基因c.919-2A>G和c.1547dupC的复合杂合突变。结论：夫妻双方皆为SLC26A4基因的复合杂合突变,生育大前庭水管综合征患儿的风险为100%,可采取不生育、领养、供精或供卵形式获取健康后代,本研究结果对于该家庭的生育后代有指导意义。 |
| 英文摘要: |
| Objective: To analyze the mutation site of SLC26A4 gene, investigate the risk of progeny and guide fertility in a pair of couples of reproductive age with enlarge vestibular aqueduct syndrome. Methods: Collect the clinical data and blood samples of a pair of couples with enlarged vestibular aqueduct syndrome, extract genomic DNA, and detect deafness gene-related mutations based on target area capture and sequencing technology. Using multiple clinical disease databases such as OMIM and many harmful prediction software such as CADD to analyze and compare the data in bioinformatics. Results: The man was found to have carried three mutant alleles of the SLC26A4 gene, namely c.230A>T, c.1174A>T and c.1547dupC, The woman was found to have carried three mutant alleles of the SLC26A4 gene, namely c.919-2A>G and c.1547dupC. Conclusion: Both husband and wife are complex heterozygous mutations of the SLC26A4 gene. The risk of giving birth to children with large vestibular plumbing syndrome is 100%. They can take the form of infertility, adoption, sperm or egg feeding to obtain healthy offspring. The results of this study are instructive for the reproductive offspring of the family. |
| 查看全文 查看/发表评论 下载PDF阅读器 |
| 关闭 |
|
|
|
