Human Y-chromosomal binary polymorphisms have been considered to preserve the paternal genetic legacy and provide evidence on human evolution and the genetic relationships among and demographic history of different populations. To reveal the genetic origin and immigration of the Fujian Han, 13 binary markers on the Y chromosome were used to screen Fujian Han by allele-specific polymerase chain reaction. The results indicated that the M9G marker was highly prevalent (96.20%), suggesting a significant genetic drift. In addition, M122C frequency was only 22.78%, and M45A and M103T were default. The distinctive haplogroup frequencies (H1, H5, and H6/7/8) imply that the haplogroup pattern is a relatively ancestral and interim type.

Many researches have been done concerning a C→T mutation at nucleotide position 677 in exon 3 of the methylenetetrahydrofolate reductase (MTHFR) gene which changes alanine to valine [1]. Here we report the MTHFR C677T mutation rate in five Chinese populations: Han nationality, Oroqen, Ewenki, Daur and Zhuangzu for the first time in the world. The relationship between this mutation and some diseases, such as coronary heart disease and neural tube defects is also explored.

The allelic states of DYS199 locus were studied by allele-specific PCR. We found that all of the 107 samples chosen from three populations of northeast China had DYS199 C alleles. The result excluded the possibility that this mutation first identified in native American populations came from the three populations of northeast China.