A NOVEL MITOCHONDRIAL POINT MUTATION IN A MATERNAL PEDIGREE WITH SENSORINEURAL DEAFNESS
A NOVEL MITOCHONDRIAL POINT MUTATION IN A MATERNAL PEDIGREE WITH SENSORINEURAL DEAFNESS
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DOI：
10.1002/humu.1380030311
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发表时间：
1994-01-01
期刊：
影响因子：
3.9
通讯作者：
JACOBS, HT
中科院分区：
文献类型：
--
作者：
REID, FM;VERNHAM, GA;JACOBS, HT
我们在一个母系中发现了一种新的线粒体突变，其中至少有13个成员有不同程度的感音神经性听力损失，但没有表现出其他病理特征。该突变位于np 7445，将tRNA-ser（UCN）的3'端T残基转化为C，并对COI终止密码子产生沉默改变。该突变破坏了chi - baI位点，在此位点上的第二个突变，即np 7444，先前已报道与Leber遗传性视神经病变有关。在调查的所有13名家庭成员中，无论他们是否明显受到耳聋的影响，都发现主要突变的mtDNA，并且一些个体在检测范围内出现同质。在600多名正常对照中没有发现这种新的突变，在27名其他无亲缘关系的耳聋患者中也没有发现这种突变。(C) 1994 Wiley-Liss, Inc。
We have detected a novel mitochondrial mutation in a maternal pedigree, at least 13 of whose members have sensorineural hearing loss of varying severity, but who exhibit no other pathological features. The mutation, at np 7445, converts the 3' terminal T residue of tRNA-ser(UCN) to a C, and also brings about a silent alteration to the COI stop codon. The mutation destroys an chi baI site, within which a second mutation, at np 7444, has previously been reported in association with Leber's hereditary optic neuropathy. Predominantly mutant mtDNA was found in all 13 family members surveyed, whether or not they are overtly affected by deafness, and some individuals appeared homoplasmic, within the limits of detection. The novel mutation was not found in over 600 normal controls, nor in any of 27 other maternally unrelated individuals with deafness Other mutations found in mitochondrial disorders were also absent from this pedigree. (C) 1994 Wiley-Liss, Inc.