遗传性耳聋的基因研究进展

聋病是影响人类健康和造成人类残疾的常见原因,许多聋病发病过程都有遗传因素作用。遗传性耳聋包括非综合征型耳聋和综合征型耳聋。研究表明,至少50%的先天性耳聋由遗传因素导致,非综合征型耳聋占70%,约77%的非综合征型耳聋为常染色体隐性遗传,综合征型耳聋是指听力障碍只是全身多处临床症状之一的遗传综合征,因此通过耳聋基因检测可为我国40%的聋病患者明确遗传学诊断,该文就遗传性耳聋基因研究的进展予以综述。

Advances of Study in Gene of Hereditary Hearing Impairment

Deafness is the common reason which affects human health and causes human disability.The progress of many deafness have genetic factors.Hereditary hearing loss includes the nonsyndromic hearing impairment and syndromic hearing impairment.The research shows that:at least 50% of congenital deafness is caused by genetic factors,the nonsyndromic hearing impairment accounts for 70%,about 77% of the nonsyndromic hearing impairment is autosomal recessive inheritance.The syndromic hearing impairment is a kind of genetic syndrome which means the hearing obstacles is one of many clinical symptoms of the whole body.40% deaf people can get a clear genetic diagnosis by the deafness gene detection.Here is to make a review on the research progress of the genetic deafness.