Table 3. Frequency of the Founder... | American Society of Hematology

Table 3.

Frequency of the Founder Haplotype (TCGA) in Normal 20210G and Polymorphic 20210A Alleles

Haplotype				20210G From Normals		20210G From Heterozygotes		20210G Combined		20210A From Heterozygotes		20210^*A From Homozygotes		20210A Combined
Int D	Int E	Ex 10	Int M	N	%	N	%	N	%	N	%	N	%	N	%
T	C	G	A	61	27.7	57	46.3	118	34.4	79	64.2	15	93.8	94	67.6

T	C	G	G	32	14.6	22	17.9	54	15.7	0	0	0	0	0	0
T	G	G	G	9	4.1	0	0	9	2.6	0	0	1	6.2	1	0.7
C	G	G	G	6	2.7	0	0	6	1.7	0	0	0	0	0	0
C	G	A	G	6	2.7	0	0	6	1.7	0	0	0	0	0	0
C	C	A	G	2	0.9	0	0	2	0.6	0	0	0	0	0	0
T	G	G	A	2	0.9	0	0	2	0.6	0	0	0	0	0	0
Undefined alleles				102	46.4	44	35.8	146	42.6	44	35.8	0	0	44	31.7
			Total	220	100	123	100	343	100	123	100	16	100	139	100

Haplotype				20210G From Normals		20210G From Heterozygotes		20210G Combined		20210A From Heterozygotes		20210^*A From Homozygotes		20210A Combined
Int D	Int E	Ex 10	Int M	N	%	N	%	N	%	N	%	N	%	N	%
T	C	G	A	61	27.7	57	46.3	118	34.4	79	64.2	15	93.8	94	67.6

T	C	G	G	32	14.6	22	17.9	54	15.7	0	0	0	0	0	0
T	G	G	G	9	4.1	0	0	9	2.6	0	0	1	6.2	1	0.7
C	G	G	G	6	2.7	0	0	6	1.7	0	0	0	0	0	0
C	G	A	G	6	2.7	0	0	6	1.7	0	0	0	0	0	0
C	C	A	G	2	0.9	0	0	2	0.6	0	0	0	0	0	0
T	G	G	A	2	0.9	0	0	2	0.6	0	0	0	0	0	0
Undefined alleles				102	46.4	44	35.8	146	42.6	44	35.8	0	0	44	31.7
			Total	220	100	123	100	343	100	123	100	16	100	139	100

*In samples of 2 subjects (4 allele), we were unable to amplify the marker in intron D. However, the polymorphisms in intron E, exon 10, and intron M were identical to those of the founder haplotype. Normals consisted of 29 subjects consecutively admitted, 32 referrals for screening of factor II polymorphism, and 49 army personnel. Heterozygotes consisted of 18 subjects identified during screening of consecutive admissions, 103 referrals for screening of factor II polymorphism, and 2 army personnel.

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