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Apolipoprotein E allele distribution in trisomy 13, 18, and 21 conceptuses in a Hungarian population
1First Department of Obstetrics and Gynecology, Semmelweis University Medical School, Budapest, Hungary.
Insights
Apolipoprotein E (apoE) epsilon 4 allele showed a 3-fold increased odds for trisomy 18, but no significant association was found for trisomy 13 or 21. Further research is needed on apoE
Area of Science:
- Genetics
- Human Biology
- Molecular Biology
Background:
- Previous reports suggested a link between apolipoprotein E (apoE) epsilon 4 allele and Down syndrome.
- The apolipoprotein E gene plays a role in lipid metabolism and has been implicated in various health conditions.
Purpose of the Study:
- To investigate the prevalence of apolipoprotein E (apoE) alleles in fetuses with trisomy 13, 18, and 21.
- To determine if specific apoE alleles are associated with an increased risk of these chromosomal abnormalities.
Main Methods:
- Analysis of apolipoprotein E (apoE) alleles (epsilon 2, epsilon 3, epsilon 4) using polymerase chain reaction-restriction fragment length polymorphism.
- Detection of trisomy status (13, 18, 21) via fluorescent polymerase chain reaction and conventional cytologic methods.
- Comparison of allele frequencies between trisomic conceptuses and a healthy control group.
Main Results:
- No significant difference in apolipoprotein E (apoE) allele distribution was observed for trisomy 21 fetuses compared to controls.
- A statistically significant 3-fold increased odds of trisomy 18 was associated with the apolipoprotein E (apoE) epsilon 4 allele compared to the epsilon 3 allele.
- No significant association was found between the apolipoprotein E (apoE) epsilon 4 allele and trisomy 13.
Conclusions:
- The apolipoprotein E (apoE) epsilon 4 allele is significantly associated with trisomy 18, but not trisomy 13 or 21.
- The observed frequencies of apolipoprotein E (apoE) epsilon 3 in Down syndrome patients and controls may support previous findings of lower atherosclerosis rates.
- The precise role of apolipoprotein E (apoE) alleles in the etiology of trisomies requires further investigation.
Abstract:
Reports documented a higher frequency of apolipoprotein E (apoE) allele epsilon 4 among mothers of children diagnosed with Down syndrome. We studied the 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-restriction fragment length polymorphism, and trisomy status was detected by fluorescent polymerase chain reaction followed by DNA fragment analysis and by conventional cytologic methods. We found no significant difference in the distribution of apoE alleles in the group of trisomy 21 fetuses compared with 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 compared with the healthy control group. Furthermore, a statistically significant association was found for those with trisomy 18 and apoE epsilon 4, while for those with trisomy 13 and apoE epsilon 4, the test showed no significant association. The observed apoE allele epsilon 3 frequencies among patients with Down syndrome and healthy control subjects may help explain and support previous work that did not find high rates of atherosclerosis among these persons. The role of apoE alleles in the development of trisomies needs further study.