青年聋人的遗传咨询与婚配指导

Genetic counseling and instruction of marriage for deaf young people： study of 115 cases

目的利用基因诊断技术分析青年聋人的分子致病机制，为青年聋人在婚前提供准确的遗传咨询与婚配指导。方法来自云南与贵州的217例青年聋人参加了此研究，经询问病史、体格检查及听力学检查之后，采集受检者外周血并提取DNA，进行GJB2全基因分析、SLC26A4常见位点突变和线粒体基因1555位点突变检测。根据基因检测结果，结合病史与查体信息，为青年聋人提供遗传信息与婚配生育指导。结果217例青年聋人中，76例（35．0％）耳聋基因检测结果阳性。23例（10．5％）为线粒体基因A1555G点突变，其中女性10例，建议患者及家庭中所有母系成员，特别是女性患者的所有后代，应终生绝对禁止使用氨基糖苷类抗生素；28例（12．9％）为GJB2纯合或复合突变；5例（2．3％）为GJB2杂合突变；19例（8．8％）为SLC26A4纯合或复合突变；1例（0．5％）为SLC26A4杂合突变。建议GJB2与SLC26A4阳性患者在婚配前其配偶要进行相应基因的检测，避免与相同基因致聋者婚配；同时向SLC26A4阳性患者提出具体的注意事项。结论青年聋人通过耳聋基因诊断可以得到更加科学准确的遗传咨询和婚配指导。

Objective To invesigate the molecular pathogenesis of deafness among the youth by means of genetic testing so as to provide pre-marriage genetic counseling and instruction for the deaf youth. Methods 217 deaf young people, 126 males and 91 females, aged 18.9 （ 16 - 26）, from Yunnan and Guizhou provinces, underwent history taking, auditory testing, and collection of peripheral blood samples. Genomic DNA and mitochondrial DNA were extracted to undergo sequence analysis of the entire gene GJB2, common point mutation of SLC26A4 gene, and mutation of mtDNA A1555G. Genetic prediction and marriage instruction were provided to each subject based on these results. Results Twenty-three of the 117 persons （10.5%） , 13 males and 10 females, were mtDNA A1555G mutation carriers and they were instructed that they, their maternal relatives, and the offspring of the female carriers, should they be born, should strictly avoid the administration of amino glycoside antibiotics. Twenty eight of the 115 persons （12.9%）, were confirmed to carry homozygous or compound GJB2 mutations, 5 individuals （2. 3% ） carried heterozygous GJB2 mutation, 19 （8.8%） carried homozygous or compound SLC26A4 mutations, and one （0.5%） carried heterozygous SLC26A4 mutation. The suggestion for them was to avoid getting married with deaf partners caused by the same deaf gene or with individuals carrying mutations in the same deaf gene. Meanwhile, suggestions such as avoiding aggressive exercises and head injury were provided to the deaf young people with SLC26A4 mutations. Conclusion Genetic testing can provide more accurate and useful genetic counseling and instruction to deaf young people for their partner selection and eugenics.