Table 2 X-chromosome exonic polymorphism... | American Society of Hematology

Table 2

X-chromosome exonic polymorphism genotypes and their transcribed allelic frequencies in informative healthy women from platelets and granulocytes

Samples	Genotyped X-chromosome polymorphisms determined to be heterozygous					Allelic frequencies of expressed exonic polymorphisms in platelets					Allelic frequencies of expressed exonic polymorphisms granulocytes					HUMARA assay
Samples	MPP1	FHL1	IDS	G6PD	BTK	MPP1 G/T	FHL1 G/A	IDS C/T	G6PD C/T	BTK C/T	MPP1 G/T	FHL1 G/A	IDS C/T	G6PD C/T	BTK C/T	Genotype	Allele ratios
GC1	+					54/46					58/42					252/278	9/91
GC2		+					61/39					60/40				-	-
GC3		+					63/37					63/37				264/264	-
GC4		+			+		56/44			58/42		53/47			55/45	-	-
GC5		+	+				53/47	53/47				61/39	60/40			278/289	57/43
GC6			+					40/60					41/59			-	-
GC7			+					63/37					60/40			270/281	6/94
GC8		+			+		34/66			67/33		36/64			68/32	260/272	68/32
GC9		+					61/39					66/34				272/278	70/30
GC10	+					74/26					73/27					275/289	55/45
GC11			+		+			34/66		32/68			36/64		30/70	267/281	86/14
GC12	+		+			65/35		35/65			59/41		39/61			267/278	92/8
GC13		+	+				42/58	41/59				44/56	48/52			270/275	33/67
GC14	+	+	+			59/41	43/57	52/48			53/47	41/59	52/48			264/270	68/32
GC15		+	+				43/57	54/46				42/58	52/48			-	-
GC16	+	+			+	73/27	30/70			31/69	72/28	35/65			30/70	-	-
GC17					+					53/47					54/46	267/272	69/31
GC18																267/278	94/6
GC19		+					27/73					30/70				258/264	9/91
GC20			+		+			70/30		32/68			68/32		34/66	272/289	77/23
GC21			+					48/52					46/54			267/275	91/9
GC22		+			+		30/70			31/69		40/60			33/67	272/281	7/93
GC23																289/298	69/31
GC24		+					65/35					66/34				267/281	55/45
GC25		+			+		65/35			55/45		57/43			54/46	270/272	36/64
GC26					+					70/30					68/32	270/270	-
GC27			+					30/70					37/63			267/270	47/53
GC28		+					75/25					73/27				272/275	I
GC29			+					61/39					65/35			275/284	60/40
GC30		+			+		41/59			57/43		46/54			58/42	275/281	47/53
GC31		+	+				71/29	68/32				68/32	72/28			272/272	-
GC32		+					56/44					63/37				278/284	20/80
GC33			+					60/40					64/36			275/281	40/60
GC34			+		+			56/44		62/38			60/40		64/36	275/284	90/10
GC35		+	+				57/43	54/46				50/50	58/42			267/278	73/27
GC37	+		+	+		23/77		36/64	61/39		28/72		38/62	58/42		ND
GC38	+			+		48/52			26/74		51/49			30/70		ND
GC39				+					60/40					58/42		ND
GC40	+	+	+			64/36	30/70	65/35			66/34	25/75	70/30			ND
YC1	+		+			40/60		43/57			43/57		44/56			ND
YC2		+	+		+		63/37	35/65		38/62		64/36	34/66		37/63	ND
YC3			+					43/57					45/55			ND
YC4	+					39/61					41/59					ND
YC5		+	+				45/55	51/49				47/53	53/47			ND

Samples	Genotyped X-chromosome polymorphisms determined to be heterozygous					Allelic frequencies of expressed exonic polymorphisms in platelets					Allelic frequencies of expressed exonic polymorphisms granulocytes					HUMARA assay
Samples	MPP1	FHL1	IDS	G6PD	BTK	MPP1 G/T	FHL1 G/A	IDS C/T	G6PD C/T	BTK C/T	MPP1 G/T	FHL1 G/A	IDS C/T	G6PD C/T	BTK C/T	Genotype	Allele ratios
GC1	+					54/46					58/42					252/278	9/91
GC2		+					61/39					60/40				-	-
GC3		+					63/37					63/37				264/264	-
GC4		+			+		56/44			58/42		53/47			55/45	-	-
GC5		+	+				53/47	53/47				61/39	60/40			278/289	57/43
GC6			+					40/60					41/59			-	-
GC7			+					63/37					60/40			270/281	6/94
GC8		+			+		34/66			67/33		36/64			68/32	260/272	68/32
GC9		+					61/39					66/34				272/278	70/30
GC10	+					74/26					73/27					275/289	55/45
GC11			+		+			34/66		32/68			36/64		30/70	267/281	86/14
GC12	+		+			65/35		35/65			59/41		39/61			267/278	92/8
GC13		+	+				42/58	41/59				44/56	48/52			270/275	33/67
GC14	+	+	+			59/41	43/57	52/48			53/47	41/59	52/48			264/270	68/32
GC15		+	+				43/57	54/46				42/58	52/48			-	-
GC16	+	+			+	73/27	30/70			31/69	72/28	35/65			30/70	-	-
GC17					+					53/47					54/46	267/272	69/31
GC18																267/278	94/6
GC19		+					27/73					30/70				258/264	9/91
GC20			+		+			70/30		32/68			68/32		34/66	272/289	77/23
GC21			+					48/52					46/54			267/275	91/9
GC22		+			+		30/70			31/69		40/60			33/67	272/281	7/93
GC23																289/298	69/31
GC24		+					65/35					66/34				267/281	55/45
GC25		+			+		65/35			55/45		57/43			54/46	270/272	36/64
GC26					+					70/30					68/32	270/270	-
GC27			+					30/70					37/63			267/270	47/53
GC28		+					75/25					73/27				272/275	I
GC29			+					61/39					65/35			275/284	60/40
GC30		+			+		41/59			57/43		46/54			58/42	275/281	47/53
GC31		+	+				71/29	68/32				68/32	72/28			272/272	-
GC32		+					56/44					63/37				278/284	20/80
GC33			+					60/40					64/36			275/281	40/60
GC34			+		+			56/44		62/38			60/40		64/36	275/284	90/10
GC35		+	+				57/43	54/46				50/50	58/42			267/278	73/27
GC37	+		+	+		23/77		36/64	61/39		28/72		38/62	58/42		ND
GC38	+			+		48/52			26/74		51/49			30/70		ND
GC39				+					60/40					58/42		ND
GC40	+	+	+			64/36	30/70	65/35			66/34	25/75	70/30			ND
YC1	+		+			40/60		43/57			43/57		44/56			ND
YC2		+	+		+		63/37	35/65		38/62		64/36	34/66		37/63	ND
YC3			+					43/57					45/55			ND
YC4	+					39/61					41/59					ND
YC5		+	+				45/55	51/49				47/53	53/47			ND

Thirty-seven of 40 elderly women (GC) were healthy; 4 of 5 young women (YC) were healthy. The normal range for allelic frequencies was 21% to 80%, determined from more than 200 healthy women.⁵ Bold type indicates patients with skewed allelic methylation by HUMARA assay; blank cells indicate not determined.

View Large

This Feature Is Available To Subscribers Only