With expanded carrier screening, founder populations run the risk of being overlooked
Bibliographic Data
Genetically isolated populations exist worldwide. Specific genetic disorders, including rare autosomal recessive disorders may have high prevalences in these populations. We searched for Dutch genetically isolated populations and their autosomal recessive founder mutations. We investigated whether these founder mutations are covered in the (preconception) expanded carrier screening tests of five carrier screening providers. Our results show that the great majority of founder mutations are not covered in these screening panels, and these panels may thus not be appropriate for use in founder populations. It is therefore important to be aware of founder mutations in a population when offering carrier tests
Biology · Founder effect · Gene · Genotype · Haplotype · Celiac Disease Research and Management · Cystic Fibrosis Research Advances · Folate and B Vitamins Research · Medicine · Genetics
| Unique citing works | 2 |
|---|---|
| Citations per year | 0.22 |
| Citation span | 2017 - 2017 (1) |
| Citation velocity | historical |
| Highly cited | No |
| Citation types | Neutral: 2 |