Feng, Xiaodong_ Xie, Hong-Guang - Applying pharmacogenomics in therapeutics-CRC Press (2016)

Pharmacogenomics and Laboratory Medicine
127
1) E10 1347 (2017) C G -> T (het)
G T A A A G A A C C T
G T A A A K A A C C T
1342 1343 1344 1345 1346 1347 1348 1349 1350 1351 1352
G T A A A G A A C C T
C A T T T M T T G G A
1342 1343 1344 1345 1346 1347 1348 1349 1350 1351 1352
(a)
p11.1 q11.2 q12 q21.1 q21.31 q21.32 q21.33 q22 q23.1
41 bp
41,245,530 bp
41,245,540 bp
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
C
A
C
C
C
C
C
C
C
T
C
C
C
C
C
C
C
C
C
C
C
C
C
C
G
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
C
P
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
G
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
A
C
C
C
A
A
A
C
A
A
A
A
A
C
C
C
C
C
C
A
C
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
C
A A G A A A T G G A A G
E
K
G
E
BRCA1
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
(b)
Genes
Exons
CNVs
Decipher syndrome
3.00
2.75
2.50
2.25
2.00
1.75
1.50
1.25
1.00
0.75
0.50
0.25
BRCA1
14 13
9
8
7
6 5
–0.25 0
–0.50
–0.75
–1.00
–1.25
–1.50
–1.75
–2.00
–2.25
–2.50
–2.75
–3.00
41.230 Mb 41.232 Mb 41.234 Mb 41.236 Mb 41.238 Mb 41.240 Mb 41.242 Mb 41.244 Mb 41.246 Mb 41.248 Mb 41.250 Mb 41.252 Mb 41.254 Mb 41.256 Mb 41.258 Mb
FIGURE 5.3 Sequencing results for BRCA1. The same patient with Sanger sequencing
results c.4039G > T (a) and NGS sequencing results c.4039G > T (b, reverse strand). The gray
arrows in (b) indicate the orientation of BRCA1 gene on chromosome 17. (c) Chromosomal
microarray analysis (CMA) results of BRCA1 gene with a gross deletion, including coding
exons (CDS5-9).
(c)