292
Anthology of Human Repetitive DNA
Tab. 10
(
continued
)
Repeat
Mutation
Locus
Chrom
Gene
Symbol
Phenotype
Alu
Deletion
NM
003982
14q11.2
Solute carrier family 7
SLC7A7
Lysinuric protein
intolerance
HERV15 [5]
Duplication
AZFa locus
Yq11.21
DEAD/H (Asp-Glu-Ala-
Asp/His) box
polypeptide
|
Droso-
phila
fat facets
related
DBY
|
USP9Y
Male infertility
Alu
Deletion
NM
002608
22q13.1
Platelet-derived growth
factor beta
PDGFB
Meningioma
Alu
Translocation
t(1;19)(q21.3;q13.2)
PAFAH1B3-CLK2
fusion
Mental retardation, ataxia
and atrophy of the brain
Alu [6]
Deletion
NM
000512
16q24.3
N-acetylgalactosamine-
6-sulfatase
precursor
GALNS
Mucopolysaccharidosis
type IVA
Alu/L1 [3], Alu
Deletion
NM
000109
Xp21.1–2
Dystrophin
DMD
Muscular dystrophy
Alu
Deletion
NM
000533
Xq22.2
Proteolipid protein
gene
PLP1
Pelizaeus–Merzbacher
disease
Alu
Deletion
NM
001171
16p13.11
ATP-binding cassette,
subfamily C, member
6
ABCC6
Pseudoxanthoma
elasticum
Alu
Deletion
NM
000330
Xp22.13
Retinoschisis factor
RS1
Retinoschisis
Alu
Deletion
NM
000521
5q13.3
Hexosaminidase B,
beta polypeptide
HEXB
Sandhoff disease
Alu
Deletion
NM
000022
20q13.12
Adenosine deaminase
ADA
Severe combined
imminode±ciency
(SCID)
Alu
Deletion
del(5)(q12.3)
Small-cell lung cancers
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