Table 2.

Preimplantation PKHD1 haplotyping by PCR using STR markers and capillary electrophoretic detection

	STR Genotypes of Patient Family
	STR:	5–326 k	5–85 k	28 k	329 k	3–104 k	3–85 k	3–263 k	3–204.2 k
	Type:	Di	Tetra	Tetra	Di	Tetra	Di	Tetra	Tri
	Father:	272, 307	361, 361	193, 185	211, 192	278, 278	235, 231	406, 423	175, 198
	Fetuses:	272, 288	361, 368	193, 193	211, 203	278, 278	235, 235	406, 406	175, 175
	Mother:	288, 307	368, 361	193, 193	203, 192	278, 315	235, 225	406, 414	175, 186
	PGD infant:	272, 307	361, 361	193, 193	211, 192	278, 315	235, 225	406, 414	175, 186
	STR Genotypes of Blastomeres
	STR:	5–326 k	5–85 k	28 k	329 k	3–104 k	3–85 k	3–263 k	3–204.2 k
	Type:	Di	Tetra	Tetra	Di	Tetra	Di	Tetra	Tri
Embryos	Cells									Predicted Haplotype
E1	−1	ADO, 288	361, ADO	193, 193	211, 203	278, 278	235, 235	406, 406	175, 175	mut
E2	−1	272, 307	361, ADO	193, 193	211, 192	278, 315	238*, 225	406, 414	[173]*, 186	het
E3	−1	272, 288	361, 368	193, 193	211, 203	278, 278	235, 235	406, 406	FA	mut
E4	−1	Cell lysed after biopsy
	−2	307, 307	361, 361	185, 193	193, 193	ADO, 315	231, 225	423, 414	ADO, 186	wt
E5	−1	FA	360, ADO	193, 193	211, 203	278, 278	235, 235	406, 406	175, 175	mut
E6	−1	307, 307	361, 361	185, [193]	192, 192	278, 315	231, 225	[423], 414	198, 186	wt
	−2	307, 307	361, 361	[185], 193	192, 192	278, 315	231, 225	423, [414]	[198], 186	wt
E7	−1	FA	360, --	185, 193	198*, --	282*, --	233*, 225	415, --	FA	Indeterminate; Morphologically poorly developed

*: Anomalous mobility

[ ]: Weak signal due to preferential amplification

-- : The expected allele was not detected

E1–E7 Embryos #1–7, STR Short tandem repeat, ADO Allele drop-out, FA Amplification failure

Remark: Paternally derived markers in each cell are shown on the left and maternally derived markers on the right (not applicable to father and mother).

Test results are reported as follows:

wt Wildtype, mut Homozygous mutation, het Heterozygous mutation (or a carrier)