中华耳科学杂志Issue(1)：11-14,4.DOI:10.3969/j.issn.1672-2922.2014.01.003
遗传性耳聋家庭康复与预防模式的探讨
Model Evaluation and Discussion in Rehabilitation and Prevention for Hereditary Deaf Family
摘要
Abstract
Objective To discuss the ideal model of rehabilitation and prevention for hereditary deaf family. Methods 58 families joined in the study during the years from 2006 to 2013. Of these families, all parents with normal hearing had one deaf child with cochlear implantation and were eager to have a healthy baby. Genomic and mitochondrial DNA of each pro-band and their parents were extracted from whole blood. The etiology and recurrent risk in 53 families were confirmed by means of the genetic testing of GJB2, SLC26A4 and mtDNA 12sRNA after medical history, physical examination, auditory test-ing and CT scan of temporal bone were completed. The prenatal testing was carried out during the pregnancy of all mothers from 11 to 26 weeks, and the following genetic information and counseling were supplied based on the result. Results The re-current risk was 25%in these 58 families, including 35 families were of parents with heterozygous GJB2 mutation and pro-bands with homozygous or compound GJB2 mutations and 23 families were of parents with heterozygous SLC26A4 mutation and probands with homozygous or compound SLC26A4 mutations. 64 times of prenatal testing were applied in all 58 families that 6 families of them received prenatal testing twice because of pregnancy twice. 20 times of prenatal testing showed that the fetuses carried parental mutations simultaneously or the same mutations with probands;while 44 times of prenatal testing showed that the fetuses carried only one parental mutation or did not carry any mutation from parents, and the following visit showed that these families had given birth to babies who were all revealed to have normal hearing by new born hearing screening. Conclu-sion As for the deaf families that the etiology is confirmed, the ideal model of rehabilitation and prevention is that the proband takes cochlear implantation and parents use prenatal diagnosis assisted by genetic testing to have a healthy baby.关键词
遗传性耳聋/耳蜗植入/GJB2基因/SLC26A4基因/基因诊断/产前诊断Key words
Hereditary Deafness/Cochlear Implant/GJB2 gene/SLC26A4 gene/Genetic testing/prenatal diagnosis分类
医药卫生引用本文复制引用
韩明昱,卢彦平,边旭明,汪龙霞,黄莎莎,王国建,康东洋,张昕,戴朴..遗传性耳聋家庭康复与预防模式的探讨[J].中华耳科学杂志,2014,(1):11-14,4.基金项目
国家科技支撑计划课题（2012BAI09B02）国家自然科学基金重点基金(81230020)；国家自然科学基金面上项目(30872862；31071099；81070792)；国家自然科学基金青年基金(81000415；81000414；81200751)；北京市科技新星计划资助项目 （81230020）
