title: The specific mitochondrial DNA polymorphism found in Klinefelter's syndrome.
abstract: Hypervariable segments of mitochondrial DNA (mtDNA) (HV1 and HV2) were analyzed in Klinefelter's syndrome and compared to normal population data. One pair of samples consisting of a Japanese mother and affected son with Klinefelter's syndrome (involved in a criminal case), and seven unrelated DNA samples from Caucasian Klinefelter males (two involved in criminal cases and five diagnosed) were collected in Japan and the United States. The diagnosis of Klinefelter's syndrome was established previously by multiplex XY-STR typing detecting two X alleles and one Y allele in the samples. Haplotype analysis of the mtDNA sequence in Klinefelter males was found to be identical, unique, and specific, as it was not found in the normal population. Astonishingly, family data exhibited that the haplotype of the mtDNA in the son was apparently different from the mother's, suggesting that the mtDNA of Klinefelter male would not be inherited from mother to son. Our data indicate that possible interaction of the sex chromosome and the mtDNA exists, and suggests that the specific mtDNA haplotype could cause the abnormal cell to fertilize and reproduce itself.
authors.affiliation: Department of Legal Medicine, Institute of Community Medicine, University of Tsukuba, Tennodai 1-1-1, Tsukuba City, Ibaraki 305-8575, Japan.
authors.forename: Haruna
authors.initials: H
authors.lastname: Oikawa
authors.forename: Zaw
authors.initials: Z
authors.lastname: Tun
authors.forename: David R
authors.initials: DR
authors.lastname: Young
authors.forename: Hiroyasu
authors.initials: H
authors.lastname: Ozawa
authors.forename: Kentaro
authors.initials: K
authors.lastname: Yamazaki
authors.forename: Einosuke
authors.initials: E
authors.lastname: Tanaka
authors.forename: Katsuya
authors.initials: K
authors.lastname: Honda
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D007564:Japan; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D014481:United States
chemical_list: D004272:DNA, Mitochondrial