title: [Genetic study of the Penta E locus and identification of rare alleles].
abstract: OBJECTIVE To study the genetic polymorphisms of Penta E locus in Fujian Han population. METHODS Polymorphisms of the Penta E locus in 851 unrelated individuals were analyzed using polymerase chain reaction-short tandem repeat (PCR-STR). The mutation rate of rare alleles was analyzed in 494 paternity identification cases (in a total of 674 meiosis). RESULTS Twenty-six alleles were identified for the Penta E locus, with their frequencies ranging from 0.0006 to 0.1528. There were 7 rare alleles, among which Penta E-28.4 ([AAAGA]29) was identified for the first time. Genetic parameters of the Penta E locus in Fujian Han population were obtained, including PIC= 0.91, PE= 0.817, PD= 0.986, and mutation rate= 0.0015. CONCLUSION The Penta E locus is highly polymorphic and has a low mutation rate in Fujian Han population. It also has a good prospect in genetics applications. DNA sequencing is a good method for identifying rare alleles.
authors.affiliation: Forensic Science Institute of Fujian Provincial Hospital, Fujian Provincial Key Laboratory of Cardiovascular Disease, Clinical College of Fujian Medical University, Fuzhou, Fujian 350001, P.R. China. Email: sxli3318@163.com.
authors.forename: Li
authors.initials: L
authors.lastname: Lai
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Shen
authors.forename: Lili
authors.initials: L
authors.lastname: Han
authors.forename: Dian
authors.initials: D
authors.lastname: Chen
authors.forename: Jie
authors.initials: J
authors.lastname: Hu
mesh_terms: D000483:Alleles; D005787:Gene Frequency; D006801:Humans; D018895:Microsatellite Repeats; D011110:Polymorphism, Genetic