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Hypervariable region polymorphism of mtDNA of recurrent oral ulceration in Chinese.


ABSTRACT:

Background

MtDNA haplogroups could have important implication for understanding of the relationship between the mutations of the mitochondrial genome and diseases. Distribution of a variety of diseases among these haplogroups showed that some of the mitochondrial haplogroups are predisposed to disease. To examine the susceptibility of mtDNA haplogroups to ROU, we sequenced the mtDNA HV1, HV2 and HV3 in Chinese ROU.

Methodology/principal findings

MtDNA haplogroups were analyzed in the 249 cases of ROU patients and the 237 cases of healthy controls respectively by means of primer extension analysis and DNA sequencing. Haplogroups G1 and H were found significantly more abundant in ROU patients than in healthy persons, while haplogroups D5 and R showed a trend toward a higher frequency in control as compared to those in patients. The distribution of C-stretch sequences polymorphism in mtDNA HV1, HV2 and HV3 regions was found in diversity.

Conclusions/significance

For the first time, the relationship of mtDNA haplogroups and ROU in Chinese was investigated. Our results indicated that mtDNA haplogroups G1 and H might constitute a risk factor for ROU, which possibly increasing the susceptibility of ROU. Meanwhile, haplogroups D5 and R were indicated as protective factors for ROU. The polymorphisms of C-stretch sequences might being unstable and influence the mtDNA replication fidelity.

SUBMITTER: Sun M 

PROVIDER: S-EPMC3446888 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Publications

Hypervariable region polymorphism of mtDNA of recurrent oral ulceration in Chinese.

Sun Mao M   Fu Shan-Min SM   Wang Li-Feng LF   Dong Guang-Ying GY   Wu Dan D   Wang Guo-Xia GX   Wu Yuanming Y  

PloS one 20120919 9


<h4>Background</h4>MtDNA haplogroups could have important implication for understanding of the relationship between the mutations of the mitochondrial genome and diseases. Distribution of a variety of diseases among these haplogroups showed that some of the mitochondrial haplogroups are predisposed to disease. To examine the susceptibility of mtDNA haplogroups to ROU, we sequenced the mtDNA HV1, HV2 and HV3 in Chinese ROU.<h4>Methodology/principal findings</h4>MtDNA haplogroups were analyzed in  ...[more]

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