A Pattern Analysis of Gene Conversion Literature

Table 4

Gene Conversion Diseases/Disorders Part 1.

Disease/Disorder	Gene 1	Gene 2	Pseudogene?	Papers
Phenylketunoria (PKU)	N/A	N/A	N/A	1
Huntington’s Disease	N/A	N/A	N/A	3
Thalassemia	IVS-2	N/A	N/A	1
APRT Deficiency	APRT	N/A	N/A	1
Congenital Adrenal Hyperplasia/Hydroxylase Deficiency	CYP21	CYP21P	Yes (CYP21P)	77
Hereditary Persistence of Fetal Hemoglobin	protein S alpha	protein S beta	No	3
Debrisoquine polymorphism	CYPD6	CYPD7 (CYPD6*2)	No	3
Sickle Cell Anemia	A Gamma	G Gamma	No	4
Gaucher’s Disease	GBA	psGBA	Yes (psGBA)	6
Thrombocytopenia	HLA Class II	N/A	N/A	1
Haemoglobin H Disease	N/A	N/A	N/A	1
Rheumatalogic Disease	HLA complex	N/A	N/A	1
Beta Thallasemia	Beta-Globin Locus	N/A	N/A	3
Blue Cone Monochromacy	RCP	GCP	No	2
K36.16 thymoma	N/A	N/A	N/A	1
Rheumatoid Arthritis	DR4	N/A	N/A	1
Spinal Muscular Atrophy	SMN	SMNtel	No	16
Hypertension	CYP11B2	CYP11B1	No	3
Chronic Myeloid Leukaemia (CML)	ABL	N/A	N/A	1
Fragile X Syndrome	FMR1	FMRa/FRAXAC2	No	5
Homocysturnia	CBS	N/A	N/A	1
Von Willebrand Disease	VWF	N/A	Yes	5
Myotonic Dystrophy	N/A	N/A	N/A	3
Myeloma	GAU Hyprid Alpha	N/A	N/A	1
Human Complement C4A Deficiency	C4A	C4B	No	1
Neurofibriomatosis Type 1 (NF1)	NF1	NF1 pseudogene	Yes	3
Colorectal Cancer	APRT	N/A	N/A	2
Carbonic anhydrase II deficiency	CA II	N/A	N/A	1
Fanconic Anemia	FAC	N/A	N/A	2
Mucopolysaccharidosis type I Hurler/Scheie	alpha-L-iduronidase	N/A	N/A	1

In this table we list the diseases and disorders associated with gene conversions. In addition, we list the genes involved where applicable (listed here as Gene 1 and Gene 2) as well as whether one was a pseudogene (and listing which is if this information was available). Finally, we list the number of abstracts that dealt with the disease/disorder.