Table 1.

Alu insertions in human disease

Locus	Chromosome	Subfamily	Disease	Referencea
3 × HEMB (IX)	X	Ya5, Ya5, Yb8	Hemophilia B	[23,56]
2 × HEMA (VIII)	X	Yb8, Yb9	Hemophilia A	[23,56]
2 × CLCN5	X	Ya6, Ya5	Dent's disease	[23,56]
2 × BTK	X	Y, Y	X-linked agammaglobulinemia	[23,56]
IL2RG	X	Ya5	X-linked severe combined immunodeficiency disease	[23,56]
GK	X	Yc1	Glycerol kinase deficiency	[23,56]
CD40LG	X	Yb8	Hyper IgM syndrome	[23,56]
ATP7A	X	Ya5a2	Menkes disease	[23,56]
CRB1	1	Y	Retinitis pigmentosa	[23,56]
ZFHX1B	2	Ya5	Mowat-Wilson syndrome	[23,56]
BCHE	3	Yb8	Cholinesterase deficiency	[23,56]
OPA1	3	Yb8	Autosomal dominant optic atrophy	[89]
CASR	3	Ya4	Hypocalciuric hypercalcemia and hyperparathyroidism	[23,56]
MLVI2	5	Ya5	Associated with leukemia	[23,56]
APC	5	Yb8	Hereditary desmoid disease	[23,56]
P5N1	7	Ya5	Chronic hemolytic anemia	[23,56]
EYA1	8	Y	Branchio-oto-renal syndrome	[23,56]
LPL	8	Yb9	Lipoprotein lipase deficiency	[23,56]
POMT1	9	Ya5	Walker Warburg syndrome	[23,56]
3 × FGFR2	10	Ya5, Yb8, Yc1	Apert's syndrome	[23,56]
TNFRSF6	10	Yb8	Autoimmune lymphoproliferative syndrome	[23,56]
C1NH	11	Yc1	Complement deficiency	[23,56]
AIP	11	Ya5	Acute intermittent porphyria	[23,56]
GNPTAB	12	Y	Mucolipidosis	[90]
3 × BRCA2	13	Ya5, Yc1, Y	Breast cancer	[91]
PMM2	16	Yb8	Congenital disorder of glycosylation type I	[92]
BRCA1	17	Ya5	Breast cancer	[23,56]
15 × NF1	17	Y subfamilies	Neurofibromatosis	[23,56,57]