New primary mutation of mtDNA in Leber′s hereditary optic neuropathy / 中华眼底病杂志

ABSTRACT

Objective To analyze the new primary mutation in Chinese people with Leber′s hereditary optic neuropathy (LHON). Methods Genomic DNA was collected from 260 suspected LHON patients and 100 normal healthy persons. The mitochondria DNA mutation at nucleotide position (NP) 15257 and the hot spot (14452-14601 bp) of ND6 gene which include the mutations at NP (14482, 14498, 14568, 14596, 14495, and 14459) were screened by using polymerase chain reaction (PCR), heteroduplex-single strand conformation polymorphism (HA-SSCP) and restriction fragment length polymorphism (RFLP) analysis and sequencing. Primary mutation spectrum of Chinese race was analyzed. Results Eight kinds of polymorphism of mitochondria DNA were found in 260 suspected LHON patients and 100 normal healthy persons, including NP 14488C, 14518G, and 14617G which hadn't been reported (http//www.mitomap.org/). No mutation at NP 15257, 14482, 14498, 14568, 14596, 14495, and 14459 was found. Conclusion The NP 15257A may not be the primary mutation in Chinese. Because of the race difference, 14452-14601 bp in ND6 gene may not be the hot spot in Chinese patients with LHON, and other hot spots may exist.