Prenatal Diagnosis for Recessive Dystrophic Epidermolysis Bullosa in 10 Families by Mutation and Haplotype Analysis in the Type VII Collagen Gene (COL7A1)

Table 1 PCR primers and conditions for microsatellite polymorphisms

						Method of Detection
Locus Symbol	Reported Localization	Primer Sequences	Annealing Temperature (°C)	Fragment Size (bp)	Heterozygosity	Acrylamide Gel	Enzyme Digestion
D3S1029	3p21.31-p21.2	L 5′-ATACTCTGGAC CCAGATTGATTAC-3′ R 5′-TAATTCCCAAATGGTTTAGGGGAG-3′	60	168	0.62	+	−
APEH	3p21.3-p21.2	L 5′-GAGTCCATGGCAGCAGTTGGCAACCATGGC-3′ R 5′-TAGATCTGAGCCCGGTGCCTGGGCCACGAA-3′	60	535/383,152	0.48	−	HindIII
D3S1235^a	3p21.3-p21.2	L 5′-GACAGAGTCAGACTCCATCT-3′ R 5′-CTTCCCATTTTCAATCCCTAG-3′	60	133–137	0.44	+	−
D3S1573^a	3p21.2-pl4.2	L 5′-CCAGTAAATCACAGGGCTAT-3′ R 5′-ITCATTTTTGCTTATTAAGATATGC-3′	57	136–154	0.79	+	−
D3S1581^b	3p21.2-pl4.2	L 5′-ACAGAACTGCCAAACCATCC-3′ R 5′-CCTGGGTCTTTATGCTGCAA-3′	59	245	0.88	+	−
D3S2	3p21.2-p21.1	L 5′-ACTATCTTGCCCTAGAGCAA-3′ R 5′-CCAAGTGGCAGAGCTACTTA-3′	55	473/236,237	0.38	−	MspI
D3S1076	3p21.2-p21.1	L 5′-ATTCCTGCATATGATCCAACTG-3′ R 5′-ACTAAGAGCAATCACTTAACTTAG-3′	60	95	0.59	+	−

ISSN: 1528-3658