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. 2002 Sep;12(9):1333–1344. doi: 10.1101/gr.384802

Table 3.

“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 frequencyc
Drafta Patient Parentb
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 Emptyd Emptyd Low
a

Size of A-tail of the Alu element retrieved from the human genome draft sequence. 

b

Only DNA from the father of the patient was available for polymerase chain reaction (PCR) analysis. 

c

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. 

d

No Alu insert present in the locus; sequence confirmed the PCR fragment to be the preinsertion site.