Table 3. PCR-RFLP for the specific... | American Society of Hematology

Table 3.

PCR-RFLP for the specific detection of RHDdeletion

Phenotype	Known genotype	Samples tested, n	Number of samples with RHD genotype, n
			Determined			Expected
			+/+	+/−	−/−	+/+	+/−	−/−	P
Known genotype
ccddee	cde/cde	14	0	0	14	0	0	14	NA
$CCddee$	$Cde / Cde$ ^3-150	5	0	0	5	0	0	5	NA
$ccddEE$	$cdE / cdE$ ^3-150	1	0	0	1	0	0	1	NA
D variants	$D / cde$ ^3-151	9	0	9	0	0	9	0	NA
$ccDEe$	$cDe / cDE$ ^3-152	4	4	0	0	4	0	0	NA
Common phenotypes
$CcDee$		10	1	9	0	0.5	9.5	0	>.4
$ccDEe$		10	0	10	0	0.3	9.7	0	>.5
$ccDee$		10	1	9	0	0.5	9.5	0	>.4
$CCDee$		10	9	1	0	9.5	0.5	0	>.4
$CcDEe$		12	11	1	0	11	1	0	>.5
$ccDEE$		10	10	0	0	9.2	0.8	0	>.4
$CCDEe$		6	5	1	0	5.8	0.2	0	>.1

Phenotype	Known genotype	Samples tested, n	Number of samples with RHD genotype, n
			Determined			Expected
			+/+	+/−	−/−	+/+	+/−	−/−	P
Known genotype
ccddee	cde/cde	14	0	0	14	0	0	14	NA
$CCddee$	$Cde / Cde$ ^3-150	5	0	0	5	0	0	5	NA
$ccddEE$	$cdE / cdE$ ^3-150	1	0	0	1	0	0	1	NA
D variants	$D / cde$ ^3-151	9	0	9	0	0	9	0	NA
$ccDEe$	$cDe / cDE$ ^3-152	4	4	0	0	4	0	0	NA
Common phenotypes
$CcDee$		10	1	9	0	0.5	9.5	0	>.4
$ccDEe$		10	0	10	0	0.3	9.7	0	>.5
$ccDee$		10	1	9	0	0.5	9.5	0	>.4
$CCDee$		10	9	1	0	9.5	0.5	0	>.4
$CcDEe$		12	11	1	0	11	1	0	>.5
$ccDEE$		10	10	0	0	9.2	0.8	0	>.4
$CCDEe$		6	5	1	0	5.8	0.2	0	>.1

The expected number ofRHD⁺/RHD⁺ andRHD⁺/RHD⁻ samples are based on known genotypes or the haplotype frequencies in the local population.33 NA indicates not applicable. Probabilities were calculated based on confidence limits of binomial distribution.

F3-150

Indicates RHD⁻ in PCR.

F3-151

Indicates RHD⁺/RHD⁻because a weak or partial D phenotype would be masked in aRHD⁺/RHD⁺ genotype. These samples were weak D type 1 (n = 2), type 2 (n = 2), type 3 (n = 2), type 4 (n = 2), and D^VII(n = 1).

F3-152

Indicates the presence of two RHD genes differing in their polymorphic HaeIII site in intron 3,34 as demonstrated by PCR-RFLP.

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