中国听力语言康复科学杂志
中國聽力語言康複科學雜誌
중국은력어언강복과학잡지
CHINESE SCIENTIFIC JOURNAL OF HEARING AND SPEECH REHABILITATION
2015年
3期
161-165
,共5页
遗传性聋%基因诊断%基因型%表型
遺傳性聾%基因診斷%基因型%錶型
유전성롱%기인진단%기인형%표형
Hereditary hearing loss%Gene diagnosis%Genotype%Phynotype
耳聋发病率高，遗传因素是导致耳聋发生的最重要的病因。遗传性聋临床表型多样，包括综合征性聋和非综合征性聋。遗传性聋是经典的单基因遗传病，其遗传方式包括孟德尔遗传中的常染色体显性、隐性、性连锁遗传，也包括线粒体母系遗传和表观遗传。随着科学技术的发展，遗传性聋的基因研究取得很大进展，目前已发现118个耳聋相关基因，为遗传性聋的基因诊断提供了可能。遗传性聋的基因诊断能够明确病因、预测迟发性聋、有效预防遗传性聋的发生，提供遗传咨询以及将遗传性聋分型和分类，指导临床耳聋管理、药物治疗或听觉干预。新一代测序技术与遗传性聋的基因研究结果结合，使临床广泛开展遗传性聋的基因诊断成为可能。随着医疗大数据和云处理时代的到来，相信不久的将来，遗传性聋基因诊断一定会在临床广泛应用并成为疾病诊断的必备依据。
耳聾髮病率高，遺傳因素是導緻耳聾髮生的最重要的病因。遺傳性聾臨床錶型多樣，包括綜閤徵性聾和非綜閤徵性聾。遺傳性聾是經典的單基因遺傳病，其遺傳方式包括孟德爾遺傳中的常染色體顯性、隱性、性連鎖遺傳，也包括線粒體母繫遺傳和錶觀遺傳。隨著科學技術的髮展，遺傳性聾的基因研究取得很大進展，目前已髮現118箇耳聾相關基因，為遺傳性聾的基因診斷提供瞭可能。遺傳性聾的基因診斷能夠明確病因、預測遲髮性聾、有效預防遺傳性聾的髮生，提供遺傳咨詢以及將遺傳性聾分型和分類，指導臨床耳聾管理、藥物治療或聽覺榦預。新一代測序技術與遺傳性聾的基因研究結果結閤，使臨床廣汎開展遺傳性聾的基因診斷成為可能。隨著醫療大數據和雲處理時代的到來，相信不久的將來，遺傳性聾基因診斷一定會在臨床廣汎應用併成為疾病診斷的必備依據。
이롱발병솔고，유전인소시도치이롱발생적최중요적병인。유전성롱림상표형다양，포괄종합정성롱화비종합정성롱。유전성롱시경전적단기인유전병，기유전방식포괄맹덕이유전중적상염색체현성、은성、성련쇄유전，야포괄선립체모계유전화표관유전。수착과학기술적발전，유전성롱적기인연구취득흔대진전，목전이발현118개이롱상관기인，위유전성롱적기인진단제공료가능。유전성롱적기인진단능구명학병인、예측지발성롱、유효예방유전성롱적발생，제공유전자순이급장유전성롱분형화분류，지도림상이롱관리、약물치료혹은각간예。신일대측서기술여유전성롱적기인연구결과결합，사림상엄범개전유전성롱적기인진단성위가능。수착의료대수거화운처리시대적도래，상신불구적장래，유전성롱기인진단일정회재림상엄범응용병성위질병진단적필비의거。
Genetic factors contribute to the most important cause of hearing loss with the high prevalence of morbidity. Hereditary hearing loss, with a diversity of phenotypes, includes two kinds of categories: the syndromic and non-syndromic. The modes of inheritance include autosomal dominant, autosomal recessive, X-linked of Mendelian inheritance, and the mitochondrial and epigenetic inheritance while hereditary hearing loss is the classic single-gene inheritance disorder. With the development of science and technology, great progress has been made in the research of hereditary hearing loss related gene. The discovery of the 118 genes associated with hearing loss makes it possible the gene diagnosis of hereditary hearing loss. The gene diagnosis of hereditary hearing loss can better determine the etiologies, predicting late-onset hearing loss, effectively preventing the occurrence of hereditary hearing loss, providing genetic counseling for patients and their relatives, classifying and grading the disease, and guiding clinical management, medication or hearing intervention. The research of hereditary hearing loss related gene, combining with the next generation sequencing technology, brings out a possibility for the wide use of clinical gene diagnosis of hereditary hearing loss. With the development of medical big data and cloud processing era, we believe that gene diagnosis of hereditary hearing loss will be used extensively in clinical application, and become a necessary basis for disease diagnosis in the near future.
