“A-Tail” Length of Several Alu Elements With 100% Identity to the Ya5a2 Alu Element Insert in the NF1 Gene
| Locus | Accession number | A-tail length | Allele frequency[iii] | ||||
| Draft[i] | Patient | Parent[ii] | |||||
| Ya5a2AD11 | AC090071 | 53 | 35 | 51 | Fixed present | ||
| Ya5a2AD12 | AC004057 | 46 | 26–28/45 | 24–31 | Fixed present | ||
| Ya5NBC208 | AL132992 | 37 | 38 | 34 | Fixed present | ||
| Ya5a2AD7 | AL138681 | 43 | 27–28 | 26–29 | Intermediate | ||
| Ya5a2AD8 | AL162713 | 53 | 23 | 31 | Intermediate | ||
| Ya5NBC220c | AC007611 | 39 | 24 | 24–25 | Intermediate | ||
| Ya5NBC239 | AL133284 | 41 | Empty[iv] | Empty[iv] | Low | ||
[i] Size of A-tail of the Alu element retrieved from the human genome draft sequence.
[ii] Only DNA from the father of the patient was available for polymerase chain reaction (PCR) analysis.
[iii] Allele frequency was classified as fixed present, fixed absent, low, intermediate, or high frequency insertion polymorphism. Fixed present: Every individual tested had the Alu element in both chromosomes. Low frequency insertion polymorphism: The absence of the element from all individuals tested, except for one or two homozygous or heterozygous individuals. Intermediate frequency insertion polymorphism: The Alu element is variable as to its presence or absence in at least one population. High frequency insertion polymorphism: The element is present in all individuals in the populations tested, except for one or two heterozygous or absent individuals.
[iv] No Alu insert present in the locus; sequence confirmed the PCR fragment to be the preinsertion site.