[Population genetic analysis of Y-chromosomal single nucleotide polymorphism in six Chinese populations].
OBJECTIVE
To analyze the genetic polymorphism of 15 single nucleotide polymorphism (SNP) loci on the nonrecombining portion of the Y chromosome in 6 populations in China.


METHODS
Allelic specific polymerase chain reaction and 2% agarose gel electrophoresis and 6% PAGE were used to analyze the genetic polymorphism of 343 unrelated males, representing 6 populations in China, including Fujian Hans, Sichuan Hans, Mongolian, Hezhen, Sibo and Hui from the South, Northeast and Northwest.


RESULTS
Thirty haplogroups were observed, and 3 of them (H15, H16, H18) were seen in all of the six populations. Although the heterozygosity levels of the Hezhen, Mongolian, Sibo populations are similar and those of the other 3 populations (Fujian Hans, Sichuan Hans, Hui) are similar, the pairwise differences among haplogroups are significant. Analysis of molecular variance (AMOVA) and principal component (PC) analysis of the haplogroup distributions suggested highly different allele diversity between group I including Hezhen, Mongolian, Sibo and group II including Hui, Fujian Hans, Sichuan Hans.


CONCLUSIONS
The above analyses show more significant variance components in Northeast/South populations and clearly reveal the geographic genetic relationship among the six populations in the Northeast/Northwest/South. These results confirm the complexity of the genetic structure of Chinese populations and make a significant contribution for constructing the contemporary human gene pool and tracing genetic dispersal trail from Chinese populations.
Zhang
Yong-li
YL
Department of Medical Genetics, Harbin Medical University, Harbin, Heilongjiang, 150086 PR China.
Yu
Min
M
Chen
Feng
F
Xue
Ya-li
YL
Ma
Lin-lin
LL
Huang
Xiao-yi
XY
Zhang
Gui-yin
GY
Li
Pu
P
Fu
Song-bin
SB
D000483:Alleles; D002681:China / Q000208:ethnology; D041322:Chromosomes, Human, Y; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D020641:Polymorphism, Single Nucleotide