Ace Alu insertion polymorphism in Croatia and its isolates

Area of Science:

• Genetics
• Population Genetics
• Human Evolution

Background:

• Alu elements are mobile genetic sequences that propagate via retroposition.
• The Ace gene Alu insertion polymorphism is a valuable marker for population structure analysis.
• Understanding genetic diversity in isolated populations is crucial for evolutionary studies.

Purpose of the Study:

• To investigate the distribution of Ace gene Alu insertion genotypes and allele frequencies in the Croatian population.
• To assess the relationship between endogamy levels and genetic variation in Croatian isolates.
• To analyze the impact of genetic drift on allele frequencies in small, endogamous subpopulations.

Main Methods:

• Genotyping of the Ace gene Alu insertion polymorphism.
• Analysis of allele frequencies and genotype distributions.
• Correlation analysis between endogamy levels and genetic diversity metrics.

Main Results:

• Significant differences in Ace Alu polymorphism were observed among Croatian population groups.
• Endogamy levels were highest on the island of Hvar.
• Increased endogamy was associated with decreased heterozygosity and a lower frequency of the insertion allele.
• Genetic drift significantly influenced allele frequencies in endogamous village subpopulations, leading to greater differentiation on Hvar island compared to the mainland.

Conclusions:

• Ace Alu polymorphism reveals distinct genetic structures within Croatian populations.
• Endogamy plays a significant role in shaping genetic diversity and promoting differentiation in isolated groups.
• The observed patterns of genetic variation are consistent with genetic drift in small, endogamous populations.
• The Ace Alu insertion allele frequency in the general Croatian population aligns with European population ranges.