Biochemical and Biophysical Research Communications
The specific mitochondrial DNA polymorphism found in Klinefelter's syndrome
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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