290
Anthology of Human Repetitive DNA
Tab. 10
(
continued
)
Repeat
Mutation
Locus
Chrom
Gene
Symbol
Phenotype
Alu
Deletion
NM
000038
5q22.2
Adenomatous
polyposis coli
APC
Colorectal cancer,
adenomatous polyposis
Alu
Deletion
NM
000251
2p21
Mismatch repair
protein
MSH2
Colorectal cancer,
nonpolyposis
Alu
Deletion
NM
000249
3p22.3
MutL homolog 1
MLH1
Colorectal cancer,
nonpolyposis
Alu
Translocation
t(1;22)(q23;q11)
Alu
Deletion
NM
000208
19p13.2
Insulin-receptor
INSR
Diabetes, insulin-resistant
Alu
Duplication
NM
000302
1p36.22
Lysyl hydroxylase
1/procollagen-lysine,
2-oxoglutarate
5-dioxygenase
PLOD
Ehlers Danlos syndrome
Alu
Translocation
t(11;22)
Ewing’s sarcoma
Alu
Deletion
NM
005243
22q12.2
Ewing sarcoma
breakpoint region 1
EWSR1
Protection against Ewing’s
sarcoma
Alu
Deletion
NM
000169
Xq22.1
Alpha-galactosidase A
GLA
Fabry disease
Alu
Deletion
NM
000135
16q24.3
Fanconi anemia,
complementation
group A
FANCA
Fanconi anemia
Alu
Deletion
NM
000419
17q21.31
Integrin alpha 2b
precursor, platelet
glycoprotein Iib,
CD41B
ITGA2B
Glanzmann’s
thrombasthenia
L1
Deletion
NM
000293
16q12.1
Phosphorylase kinase,
beta subunit
PHKB
Glycogen storage disease
Alu
Deletion
NM
000152
17q25.3
Alpha-glucosidase
GAA
Glycogen storage disease
type II
Alu
Deletion
NM
002133
22q12.3
Heme oxygenase-1
HMOX1
Heme oxygenase-1
defciency
Alu
Deletion
NM
000132
Xq28
Coagulation ±actor VIII
F8
Hemophilia A
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