Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy
Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy
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DOI：
10.1007/s10038-006-0032-2
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发表时间：
2006-10-01
影响因子：
3.5
通讯作者：
Zhang, Qingjiong
中科院分区：
文献类型：
--
作者：
Jia, Xiaoyun;Li, Shiqiang;Zhang, Qingjiong
我们基于对来自 903 个中国家庭的疑似患有 LHON 的先证者的分析，报告了导致莱伯遗传性视神经病变 (LHON) 的线粒体 DNA (mtDNA) 三种主要突变的分子流行病学。其中大多数患有原因不明的视神经病变，只有128人有视神经病变家族史。在 346 名先证者中检测到线粒体 DNA 突变。 346例中，同质性340例，异质性仅6例；男性284人，女性62人； 120 例有家族史，226 例为散发病史。分别在 312 个（90.2%）、30 个和 4 个家族中检测到 G11778A、T14484C 和 G3460A 突变。中国所有 LHON 病例中的大多数（226/346，65.3%）是散发性的。这 226 名先证者 (29.2%) 是从 775 名患有散发性视神经病变的先证者中鉴定出来的。所有先证者受影响的男女比例为 4.6:1，但家庭成员的男女比例为 2.2:1。平均发病年龄为18.5岁，范围为4.5岁至47岁。
We report the molecular epidemiology of three primary mutations in mitochondrial DNA (mtDNA) responsible for Leber hereditary optic neuropathy (LHON) based on analysis of probands suspected with LHON from 903 Chinese families. Most of them had optic neuropathy of unknown cause, and only 128 had a family history of optic neuropathy. Mutations in the mtDNA were detected in 346 probands. Of the 346 cases, 340 were homoplasmic and only six were heteroplasmic; 284 were male and 62 were female; 120 had a family history and 226 were sporadic. G11778A, T14484C and G3460A mutations were detected in 312 (90.2%), 30, and four families, respectively. The majority (226/346, 65.3%) of all LHON cases in Chinese are sporadic. These 226 probands (29.2%) were identified from 775 probands with sporadic optic neuropathy. Affected male-to-female ratio was 4.6:1 for all probands but was 2.2:1 for family members. Average age at onset was 18.5 years, ranging from 4.5 to 47 years old.