According to the genotyped result (34), sample CN1 has a heterozygous de novo Alu sequence
(approximately 483 bp) inserted 44 bp upstream of exon 42 and immediately adjacent to a poly (A/T) stretch, which causes deletion of the downstream exons during splicing.
In his past work, Hammer has studied an Alu sequence
that in some men sits at a particular site on the Y chromosome.
YAP is an Alu sequence
that hopped to a specific site on the Y chromosome at a relatively recent moment in human evolution.
Now, for the first time, geneticists have shown that an Alu sequence
can wrggle out of its usual place between genes and splice itself into a working gene, causing a disease, says Collins.
We identified an abnormal sequence inserted in exon 2 as an Alu sequence
and a direct repeat (300 + 15 bp).
The highly repetitive Alu sequence
was used as a hybridization probe and was directly digoxigenin-labeled by a PCR process using the PCR DIG Probe Synthesis Kit (Roche).
was also measured by HPA, using a probe: 5'-TGT AAT CCC A*GC ACT TTG GGA GGC-3', where * indicates the AE position.
The ACE diallelic polymorphism was genotyped by polymerase chain reaction for amplification of the variable segment, located in a repetitive Alu sequence
in intron 16; resolution of the 190- and 490-bp alleles on 1.
A confirmatory PCR method, which requires an additional third PCR primer inside the Alu sequence
of the I allele, was proposed to minimize the mistyping of the I allele as a D allele (9).
Together, the LINE and ALU sequences
comprise approximately 30% of the genome (Miki 1998).
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).