Anthology of Human Repetitive DNA
287
Alu/Ya5
NM
000206
Xq13.1
Interleukin 2 receptor, gamma
IL2RG
X-linked severe combined
immunodefciency
Alu/Y
NM
000061
Xq22.1
Bruton agammaglobulinemia
tyrosine kinase
BTK
X-linked agammaglobulinemia
Alu/Ya5
NM
000133
Xq27.1
Coagulation Factor IX
±9
Hemophilia B
Alu/Ya3a1
NM
000133
Xq27.1
Coagulation Factor IX
±9
Hemophilia B
Alu/n.a.
NM
000133
Xq27.1
Coagulation Factor IX
±9
Hemophilia B
Alu/Yb8
NM
000132
Xq28
Coagulation Factor VIII
±8
Hemophilia A
Alu/Yb8
A±074480
6p22.3
CMP-N-acetylneuraminic acid
(CMP-Neu5Ac) hydroxylase
CMAH
Inactivated in humans, fxed
L1/Ta
NM
000518
11p15.4
b-Globin
HBB
Beta thalassemia
L1/Ta
NM
000038
5q22.2
Adenomatosis polyposis coli
APC
Colon cancer
L1/Ta
NM
006731
9q31.2
±ukutin
±CMD
±ukuyama-type congenital
muscular dystrophy
L1/Ta
NM
006915
Xp11.3
Retinitis pigmentosa 2 gene
RP2
X-linked retinitis pigmentosa 2
2x L1/Ta
NM
000397
Xp11.4-Xp21.1
Cytochrome b-245, beta
polypeptide
CYBB
Chronic granulomatous disease
4x L1/Ta
NM
000109
Xp21.1–2
Dystrophin
DMD
3x muscular dystrophy, 1x
X-linked dilated
cardiomyopathy
L1/Ta
NM
000133
Xq27.1
Coagulation Factor IX
±9
Hemophilia B
2x L1/Ta
NM
000132
Xq28
Coagulation Factor VIII
±8
Hemophilia A
1x L1/pre-Ta
SVA
NM
003126
1q23.1
Alpha spectrin
SPTA1
Hereditary elliptocytosis
SVA
NM
006731
9q31.2
±ukutin
±CMD
±ukuyama-type congenital
muscular dystrophy
SVA
NM
000061
Xq22.1
Bruton agammaglobulinemia
tyrosine kinase
BTK
X-linked agammaglobulinemia
SVA
NM
000527
19p13.2
Low density lipoprotein receptor
LDLR
±amilial hypercholesterolemia
Source
: The table is based on the updated online database oF TE insertions into the human genome
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