Forensic avaluation and population genetic study of KIR2DS4 insertion/deletion polymorphisms in a Spanish population

Abstract

Polymorphisms (Indels) of insertion/deletion are a class of diallelic genetic markers resulting from a single mutation event and reflect the insertion or deletion of genomic DNA bases. The aim of this study was to analyze the distribution of the allelic variants of KIR2DS4 in the Spanish Caucasian population and compared it with other populations described in the literature. Genotyping of allelic variants of KIR2DS4 was performed by PCR-SSO in 127 healthy Spanish Caucasian individuals and were subsequently compared with 26 different world populations. A frequency of KIR2DS4-full (36.2%) allelic variants was found in the Spanish population, similar to those found European populations, but different and higher frequency in South and Central America and the Caribbean, Saudi Arabia, Sub-Saharan African as well as Hong Kong and Korean populations. A frequency of 77.2% of KIR2DS4-delected variant was found in Spanish population, while lower percentages were found in Sub-Saharan Africa, China, Hong Kong and Korea. No differences in the distribution of KIR2DS4 variants were observed between AA/BX KIR haplotypes and genotypes. In conclusion, our results enrich the Caucasian genetic information of the KIR2DS4 allelic variants between the Spanish Caucasian and other populations that could be useful in clinical, forensic and anthropological studies.