[Heteroplasmy in human mtDNA control region].
OBJECTIVE
To observe the length heteroplasmy and point heteroplasmy in human mtDNA control region.


METHODS
The peripheral blood, buccal cell, and single hair shaft from 50 individuals and 16 family members, related in their maternallineage were analyzed by direct sequencing, and clones from 20 individuals whose mtDNA sequences have a T-C transition at 16189 nt were sequenced.


RESULTS
No point heteroplasmy were observed in peripheral blood, buccal cell, single hair shaft from the same individual, neither in maternally related individuals. Length heteroplasmy was observed in those individuals with a homopolymeric tract and the different clones from the same individual has different proportions of length variants, but the hair shafts from the same individual were very similar to the measurements made from blood DNA. No length heteroplasmy was observed between different tissues from the same individual.


CONCLUSIONS
mtDNA sequences have a characteristic of high consistency and genetic stability, mtDNA sequencing is a suitable tool for forensic applications such as individual identification.
Cao
Yang
Y
Division of the Criminal Investigation Department, Jiangsu Provincial Public Security Bureau, Nangjing 210024, China. yangcaocq@yahoo.com.cn
Wan
Li-Hua
LH
Gu
Lin-Gang
LG
Huang
Ying-Xue
YX
Xiu
Cong-Xian
CX
Hu
Shu-Hui
SH
Mi
Can
C
D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods*; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D004847:Epithelial Cells; D018740:Genetic Heterogeneity; D006197:Hair / Q000737:chemistry; D006801:Humans; D009055:Mouth / Q000166:cytology; D017354:Point Mutation; D011110:Polymorphism, Genetic / Q000235:genetics
D004272:DNA, Mitochondrial