Analysis of Nucleotide Variations in Genes of Iron Management in Patients of Parkinson's Disease and Other Movement Disorders

Table 2

Allelic frequencies of the sequence variations identified in CP and IRP-2 genes in sNFT patients.

Gene	NBIA	DNA variation	Gene position	AF	AF	AF
				NBIA	CNT	DB
FTL	11	c+163T>C (L55L) rs2230267	ex. 2	31.82% (7/22)	25% (90/360)	52% (1)
FTH	11	c+161A>G (K54R)	ex. 2	None	0.56% (2/360)
FTMT	11	c+134C>A (P45H)	ex.1	4.55% (1/22)	2.49% (17/684)
CP	11	c+1632A>T (D544E) rs701753	ex. 9	9.09% (2/22)		7.5% (1)
		c+1652C>T (T551I) rs61733458	ex.9	4.55% (1/22)		nd
		IVS1+41G>A rs3736282	int. 1	13.64% (3/22)		11.4% (2)
		IVS2+20C>T rs17847023	int. 2	18.2% (4/22)		10.9% (2)
		IVS10+91C>G rs41267873	int. 10	4.55% (1/22)		0.0% (2)
		IVS12−15delG rs34861155	int. 12	18.2% (4/22)		36.4% (2)
		IVS15−12T>C rs16861582	int. 15	18.2% (4/22)		32.5% (1)
IRP2	11	c−89C>T rs954144	5^′ UTR	22.95% (6/22)		44% (3)
		c+2616C>T (A872A) rs13180	ex. 21	21% (4/22)		35% (1)

Genomic DNA from idiopathic NBIA patients was PCR amplified and scanned by DHPLC. sNFT: suspected Neuroferritinopathies, AF: allelic frequency, DB: database.
FTL: ferritin light chain (NM_000146.3), FTH: ferritin heavy chain (NM_002032.2), FTMT: mitochondrial ferritin (NM_026286.2), CP: ceruloplasmin (NM_000096.3), IRP2: iron regulatory protein-2 (NM_004136.2), ex: exon, int = intron, (1) HapMap-CEU, (2) JAR CEPH-PANEL, (3) pilot1.CEU.