Table 3.

Alu Ya5a2 (NF1)-Associated Human Genomic Diversity

Ya5a2 elements Accession no. (duplicates) Position Allele frequency[i]
Ya5NBC206 AC004057 76767–77048fixed present
Ya5NBC207 AL118555 (AL132992)9981–9700 (40728–41009)fixed present
Ya5NBC208 AL109919 70170–69889intermediate
Ya5NBC220 AC007611 136715–136434intermediate
Ya5NBC240 AC133410 (AL135841)34800–35081 (49829–49548)intermediate
Ya5NBC241 AC018924 144017–144298intermediate
Ya5NBC242 AC009517 161301–161582intermediate
Ya5NBC7 AC004848 24522–24241low
Ya5NBC205 AL011328 204488–204207low
Ya5NBC209AC00808147056–146775low
Ya5NBC239 AL133284 115867–115586low
Ya5NBC244 AC026839 64885–64604low
Ya5NBC243 AJ011929 151192–151473low
Ya5NBC235[ii] AQ748733 458–739fixed present
Ya5NBC237[iii] AL031274 33175–33501intermediate

[i] 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.

[ii] Several Ns.

[iii] Ya5NBC237 is the exact match to the FGFR2 Alu insertion.