Apolipoprotein E allele distribution in trisomy 13, 18, and 21 conceptusesin a Hungarian population

Repots documented a higher frequency of apolipoprotein E (apoE) allele epsi lon 4 among mothers of children diagnosed with Down syndrome. We studied th e prevalence of apoE alleles among 56 conceptuses with trisomy 13, trisomy 18, or trisomy 21. The presence of the 3 most common apoE alleles (epsilon 2, epsilon 3, epsilon 4) was determined by polymerase chain reaction-restri ction fragment length polymorphism, and trisomy status was detected by fluo rescent polymerase chain reaction followed by DNA fragment analysis and by conventional cytologic methods. We found no significant difference in the d istribution of apoE alleles in the group of trisomy 21 fetuses compared wit h samples from healthy blood donors. The odds of having trisomy 18 for the apoE epsilon 4 group was 3-fold as high as for apoE epsilon 3 allele compar ed with the healthy control group. Furthermore, a statistically significant association was found for those with trisomy IB and apoE epsilon 4, while for those with trisomy 13 and apoE epsilon 4, the test showed no significan t association. The observed apoE allele epsilon 3 frequencies among patient s with Down syndrome and healthy control subjects may help explain and supp ort previous work that did not find high rates of atherosclerosis among the se persons. The role of apoE alleles in the development of trisomies needs further studies.