Anthology of Human Repetitive DNA
291
Alu
Deletion
NM
004402
1p36.32
Caspase-activated
DNase, beta
polypeptide
CAD
Hepatoma
L1
Deletion
NM
000249
3p22.3
MutL homolog 1
MLH1
Hereditary nonpolyposis
colorectal cancer
Alu
Transposition
NM
000202
Xq28
Iduronate-2-sulfatase
IDS
Hunter disease
/Deletion
Alu
Deletion
NM
000527
19p13.2
Low density lipoprotein
LDLR
Hypercholesterolemia,
/Duplication
receptor
familial
Alu
Deletion
NM
000064
19p13.3
Alpha chain of
complement
component 3
C3
Hyperlipidemia, familial
combined
Alu
Deletion
NM
000384
2p24.1
Apolipoprotein B
precursor
APOB
Hypobetalipoproteinemia
Alu
Deletion
NM
000194
Xq26.2
Hypoxanthine
HPRT
Lesch–Nyhan syndrome
/Duplication
phosphoribosyl-
transferase
Alu
Deletion
Numerous
Several, including MLL,
Leukemia, various
/Duplication
translocations [1]
MOZ and CPB
acute/chronic forms
/Translocation
Alu
Deletion
NM
000546
17p13.1
Tumor protein p53
TP53
Li-Fraumeni syndrome
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continued overleaf
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