6% consists of Alu sequences
, a type of SINE (short and dispersed repeated elements) sequence and preferentially located towards the genes.
Correlated editing is observed for pairs and triplets of specific adenosines along the Alu sequences
Together, the LINE and ALU sequences
comprise approximately 30% of the genome (Miki 1998).
In view of the complexity of the premature stop codon mutations in NF1 , the existence of 7 pseudogenes and pseudogene sequences on different chromosomes, and the fact that this gene consists of 58 exons and harbors complex genomic structures, such as repetitive sequences and Alu sequences
, NF1 is an ideal clinical target for evaluating the effectiveness of the SCE-NGS method for clinical applications (24,26-29).
are short stretches of DNA with the unusual ability to copy themselves and jump from one chromosome to another.
PCR primers were designed toward consensus LINE-1 and Alu sequences
and allowed for the amplification of a representative pool of repetitive elements to serve as a surrogate for diffuse genomic DNA methylation changes.
The breakpoints involved alu sequences
, because it has been reported for other BRCA1 deletions (19).
Tens of thousands of Alu sequences
lace the human genome, but their functions remain unknown.
are short interspersed elements, typically 300 nucleotides in length, that account for more than 10% of the human genome (12).
Human Cytochrome P450 4 mRNA and gene: part of a multigene family that contains Alu Sequences
in its mRNA.
are short interspersed elements that are distributed widely throughout the human genome (10).
The human LDL receptor: a cysteine-rich protein with multiple Alu sequences
in its mRNA.