Genetic study of the Penta E locus and identification of rare alleles

Abstract OBJECTIVE To study the genetic polymorphisms of PentaE locus in Fujian Han population. METHODS Polymorphisms of the PentaE locus in 851 unrelated individuals were analyzed using polymerase chain reaction-short tandem repeat(PCR-STR). The mutation rateof rare alleles was analyzed in 494 paternity identification cases (in a total of 674 meiosis). RESULTS Twenty-six alleles were identified for the PentaE locus, with their frequencies ranging from 0.0006 to 0.1528. There were 7 rare alleles, among which PentaE-28.4 ([AAAGA]29) was identified for the first time. Genetic parameters of the PentaE locus in Fujian Han population were obtained, including PIC= 0.91, PE= 0.817, PD= 0.986, and mutation rate= 0.0015. CONCLUSION The PentaE locus is highly polymorphic and has a low mutation ratein Fujian Han population. It also has a good prospect in genetics applications. DNA sequencing is a good method for identifying rare alleles.