Polymorphism of esterase D in the Polish population.

Area of Science:

• Population genetics
• Human genetics
• Biochemistry

Background:

• Esterase D (EsD) is a human enzyme encoded by a polymorphic gene.
• Understanding EsD gene distribution is crucial for population genetics and forensic science.
• Previous studies have documented EsD allele frequencies in various global populations.

Purpose of the Study:

• To determine the distribution of esterase D (EsD) phenotypes and allele frequencies in a Polish population sample.
• To investigate the genetic model of inheritance for the EsD system in this cohort.
• To compare the observed EsD gene frequencies with those reported in other European populations.

Main Methods:

• Phenotyping of esterase D enzyme types was performed on 885 unrelated Polish individuals.
• Allele frequencies for EsD1 and EsD2 were calculated based on phenotype distributions.
• A segregation analysis was conducted using 613 mother-child pairs to validate the genetic model.

Main Results:

• The frequencies for EsD types were EsD1-1 (0.810), EsD2-1 (0.174), and EsD2-2 (0.016).
• The calculated allele frequencies were EsD1 (0.897) and EsD2 (0.103).
• Analysis of mother-child pairs supported the hypothesis of two codominant alleles at the EsD locus.

Conclusions:

• The esterase D (EsD) gene distribution in the Polish population is characterized by a high frequency of the EsD1 allele.
• The observed EsD allele frequencies align with those previously reported in other European populations.
• The findings confirm the established two-allele genetic model for the EsD system in the studied Polish cohort.