The specific mitochondrial DNA polymorphism found in Klinefelter's syndrome

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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.

Section snippets

Materials and methods

Subjects. DNA samples for population studies were collected by phenol/chloroform extraction and the ethanol precipitation method from whole blood samples from 120 unrelated Japanese living in Osaka area, Japan. One Japanese family (mother and affected Klinefelter son) and seven unrelated DNA samples of Caucasian Klinefelter males were collected from Osaka and the US. The diagnosis of Klinefelter's syndrome was carried out on all samples previously using multiplex XY-STR typing identifying two

Results

Table 1 showed polymorphism of mtDNA HV1 in Klinefelter's syndromes compared to Anderson's sequence and other population data including our Japanese data. Noticeably, the mutation in this region was almost identical among Klinefelter's syndrome samples. The polymorphisms found in Klinefelter males were rare in the normal population. In addition, we found that in the case of the mother–son pair several nucleotide positions of the son were apparently different from those of the mother (Fig. 1),

Discussions

Human mtDNA was believed to have been inherited from mother to child and identical throughout life. Although these features of mtDNA make it a particularly useful target for forensic analysis [18], there are confusing aspects of the uniformity that need to be considered to ensure the manner in which the mtDNA is inherited [19]. Recently, some evidence was obtained that heteroplasmic point mutation was not rare in human cells [20], and that we could not ignore the affects of paternal mtDNA to

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