Anthology of Human Repetitive DNA
289
Tab. 10
Recombination of interspersed repeats and human diseases.
Repeat
Mutation
Locus
Chrom
Gene
Symbol
Phenotype
Alu
Deletion
NM
000511
19q13.33
Alpha(1,2)fucosyl-
transferase
FUT2
ABO-Bombay phenotype
Alu
Deletion
NM
000033
Xq28
ATP-binding cassette,
subfamily D,
member 1
ABCD1
Adrenoleukodystrophy
Alu
Deletion
NM
000061
Xq22.1
Bruton’s tyrosine
kinase
BTK
Agammaglobulinemia,
X-linked
Alu
Deletion
NM
000273
Xp22.22
Albinism ocular type 1
gene
OA1
Albinism ocular type 1
L1
Deletion
NM
001847
Xq23
Type IV alpha 6
collagen
COL4A6
Alport syndrome and
diffuse leiomyomatosis
Alu [2]
Deletion
NM
000021
14q24.2
Presenilin-1
PSEN1
Alzheimer’s disease, early
onset
Alu
Deletion
NM
000062
11q12.1
Complement
component 1
inhibitor precursor
C1NH/SERPING1
Angioedema, hereditary
Alu
Deletion
NM
003190
6p21.32
Tapasin
TAPBP
Bare lymphocyte
syndrome, type I
Alu/L1 [3]
Translocation
t(9;11)(p24;q23)
Bipolar affective disorder
(manic depression)
Alu
Deletion
NM
007295
17q21.31
Breast cancer 1, early
onset
BRCA1
Breast and/or ovarian
cancer
Alu [4]
Deletion
NM
000059
13q13.1
Breast cancer 2
BRCA2
Breast cancer
Alu
Deletion
NM
005228
7p11.2
Epidermal growth
factor receptor
EGFR
Cancer, glioblastomas
Alu
Deletion
NM
000321
13q14.2
Retinoblastoma
RB1
Cancer predisposition
(
continued overleaf
)
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