title: 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.
  
  
  RESULTS
  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
  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.
authors.affiliation: Center for DNA Typing, Fourth Military Medical University, Xi'an, China.
authors.forename: Mao
authors.initials: M
authors.lastname: Sun
authors.forename: Shan-Min
authors.initials: SM
authors.lastname: Fu
authors.forename: Li-Feng
authors.initials: LF
authors.lastname: Wang
authors.forename: Guang-Ying
authors.initials: GY
authors.lastname: Dong
authors.forename: Dan
authors.initials: D
authors.lastname: Wu
authors.forename: Guo-Xia
authors.initials: GX
authors.lastname: Wang
authors.forename: Yuanming
authors.initials: Y
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019226:Oral Ulcer / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial