Genetic study of the Penta E locus and identification of rare alleles.
10.3760/cma.j.issn.1003-9406.2015.05.010
- VernacularTitle:Penta E基因座的遗传多态性及稀有等位基因分析
- Author:
Li LAI
1
;
Xiaoli SHEN
;
Lili HAN
;
Dian CHEN
;
Jie HU
Author Information
1. 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.
- Publication Type:Journal Article
- MeSH:
Alleles;
Gene Frequency;
Humans;
Microsatellite Repeats;
Polymorphism, Genetic
- From:
Chinese Journal of Medical Genetics
2015;32(5):657-660
- CountryChina
- Language:Chinese
-
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.
