286
Anthology of Human Repetitive DNA
Tab. 9
Insertions of interspersed repeats and human diseases.
Repeat
Locus
Chrom
Gene
Sym bol
Phenotype
Alu/Ya5
Human homolog of moloney
murine virus leukemia
(MMLV) retrovirus
insertion locus
MLVI-2
Associated with leukemia
1x Alu/Yb8
NM
000141
10q26.13
Fibroblast growth factor
receptor 2 isoform 1
FGFR2
Apert syndrome
1x Alu/Ya5
Alu/Y
NM
000062
11q12.1
Serine/cysteine proteinase
inhibitor
C1NH
C1 inhibitor de±ciency
Alu/Ya5
NM
000190
11q23.3
Porphobilinogen deaminase
(hydroxymethylbilane
synthase)
PBGD/HMBS
Acute intermittent porphyria
Alu/Y
NM
000059
13q13.1
Breast cancer 2
BRCA2
Breast cancer
Alu/Ya5
NM
000267
17q11.2
Neuro±bromin1
NF1
Neuro±bromatosis
Alu/Ya5
NM
000789
17q23.3
Angiotensin I converting
enzyme isoform 1
ACE
Protection against myocardial
infarction and age-related
macular geneneration?
Alu/n.a.
NM
000092
2q36.3
Alpha 4 type IV collagen
precursor
COL4A3
Alport syndrome
Alu/Ya4
NM
000388
3q21.1
Calcium-sensing receptor
CASR
Familial hypocalciuric
hypercalcemia
Alu/Yb8
NM
000055
3q26.1
Butyrylcholinesterase
BCHE
Acholinesterasemia
Alu/n.a.
NM
001119
4p16.3
Adducin 1, transcript variant 1
ADD1
Huntington disease
Alu/Yb1
NM
006264
4q21.3
Protein tyrosine phosphatase,
nonreceptor type 13
PTPN13 (APO-
1/CD95)
Autoimmune lymphoproliferative
syndrome
Alu/Yb8
NM
000038
5q22.2
Adenomatosis polyposis coli
APC
Hereditary desmoid disease
Alu/Ya5
NM
000503
8q13.3
Eyes absent homolog 1
(Drosophila)
EYA1
Branchio-oto-renal syndrome
Alu/Ya5
NM
000167
Xp21.2
Glycerol kinase
GK
Glycerol kinase de±ciency
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