Abstract
Apolipoprotein E (APOE) gene polymorphism can affect APOE gene transcription, serum lipid levels and repair of tissue damage, which could place individuals at serious risk of cardiovascular disease or certain infectious diseases. Recently, high-resolution melting (HRM) analysis was reported to be a simple, inexpensive, accurate and sensitive method for the genotyping or/and scanning of rare mutations. For this reason, an HRM analysis was used in the present study for APOE genotyping in the Southern Chinese Han and African Fang populations. A total of 100 healthy Southern Chinese Han and 175 healthy African Fang individuals attended the study. Polymerase chain reaction-DNA sequencing was used as a reference method for the genotyping of these samples. The six APOE genotypes could all be rapidly and efficiently identified by HRM analysis, and 100% concordance was found between the HRM analysis and the reference method. The allele frequencies of APOE in the Southern Chinese Han population were 7.0, 87.5 and 5.5% for ɛ2, ɛ3 and ɛ4, respectively. In the African Fang population, the allele frequencies of APOE were 24.3, 65.7 and 10.0% for ɛ2, ɛ3 and ɛ4, respectively. A statistically significant difference was found between the allele frequencies between the populations (P<0.05). In conclusion, the present study revealed the molecular characterization of APOE gene polymorphism in the Han population from the Chaozhou region of Southern China and the Fang population from Equatorial Guinea. The findings of the study indicated that HRM analysis could be used as an accurate and sensitive method for the rapid screening and identification of APOE genotypes in prospective clinical and population genetic analyses.
Highlights
Apolipoprotein E (APOE) is an important plasma protein involved in lipoprotein metabolism and the transport of cholesterol and triglyceride [1,2,3]
There are three types of common variant alleles (ε2, ε3 and ε4) in the world, which result from two single nucleotide polymorphisms on the APOE gene
Epidemiological studies have indicated that there is a notable association between APOE gene polymorphism and a serious risk of cardiovascular disease or certain infectious diseases [4,5,6]
Summary
Apolipoprotein E (APOE) is an important plasma protein involved in lipoprotein metabolism and the transport of cholesterol and triglyceride [1,2,3]. Various methods have been developed to detect APOE genotypes, including allele‐specific polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) analysis [10,11], PCR‐single‐strand conformational polymorphism analysis [12], microarrays [13], PCR‐DNA sequencing [14] and allele‐specific PCR [15]. These approaches, are expensive or time‐consuming and are not appropriate for rapid molecular diagnoses in clinical practice or for molecular screening in large populations; the development of a reliable and rapid method of detecting the ZHAN et al: IDENTIFICATION OF APOE GENOTYPES BY HRM IN CHINESE AND AFRICAN POPULATIONS common APOE genotypes would be useful for clinical and population genetic analyses. An HRM assay was developed to identify APOE genotypes rapidly and effectively in the Chinese Han and African Fang populations
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