Zhang N, Qiao X, Wang L, Liang C
Department of Otorhinolaryngology, WCUMS, Chengdu, 610041, China.
Hua Xi Yi Ke Da Xue Xue Bao. 2001 Dec;32(4):596-8, 626.
To identify the incidence of the 1555A-->G mutation and explore the audiological features of pedigrees with matrilineal non-syndromic deafness in Southwest of China so as to provide the theoretical evidence for establishing the method of gene diagnosis.
Six pedigrees with 102 members were evaluated audiologically and clinically. DNA was extracted from their blood samples. All subjects were screened for mitochondrial DNA 1555A-->G mutation by Alw 26I restriction endonuclease digestion.
Seventeen maternal relatives of aminoglycoside antibiotic induced deafness (AAID) pedigree 1 and pedigree 2, carried 1555A-->G mutation. 10 maternal relatives of Non-AAID pedigree 6 also carried 1555A-->G mutation. No mutation was found among paternal relatives and pedigrees 3, 4 and 5.
The same audiological features of these pedigrees are: bilateral and symmetrical progressive sensorineural hearing loss with variable age of onset. The 1555A-->G mitochondrial mutation is one of the hereditary factors for this disorder. 4 Aminoglycoside antibiotic plays an important role in developing deafness. The incidence of the 1555A-->G mutation in AAID and matrilineal non-syndromic deafness pedigrees is fairly high. Screening for mitochondrial 1555A-->G mutation may be of great clinical use fullness.
确定1555A→G突变的发生率，探讨中国西南地区母系遗传性非综合征性耳聋家系的听力学特征，为建立基因诊断方法提供理论依据。
对6个家系共102名成员进行听力学和临床评估。采集他们的血样提取DNA。采用Alw 26I限制性内切酶消化法对所有受试者进行线粒体DNA 1555A→G突变筛查。
氨基糖苷类抗生素致聋（AAID）家系1和家系2的17名母系亲属携带1555A→G突变。非AAID家系6的10名母系亲属也携带1555A→G突变。父系亲属以及家系3、4和5中未发现突变。
这些家系相同的听力学特征为：双侧对称性进行性感音神经性听力损失，发病年龄不一。1555A→G线粒体突变是该疾病的遗传因素之一。氨基糖苷类抗生素在致聋过程中起重要作用。AAID和母系遗传性非综合征性耳聋家系中1555A→G突变的发生率相当高。筛查线粒体1555A→G突变可能具有很大的临床应用价值。
