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Table 1 Variations found in DHPLC screening.

From: ALDH1A2 (RALDH2) genetic variation in human congenital heart disease

SNP

CHD chromosomes

Non-CHD chromosomes

c.A453G (exon 4)(rs16939660)

1/166 (0,6%)

0/200 (0%)

rs35667670 intron 2

3/146 (2%)

3/92 (3,26%)

c.160-422G > A (intron 3)

80/158 (50,63%)

41/88 (46,6%)

c.25-422G > C (intron 3)

1/166 (0,6%)

2/100 (2%)

c.116+613G > T (intron 5)

63/156 (40,38%)

44/94 (46,80%)

c.92+742_93+742insA (intron 6)

1/166 (0,6%)

0/100 (0%)

rs3784259 (intron 8)

75/158 (47,48%)

46/92 (50%)

  1. In this study we found 5 intronic alterations and one polymorphism (c.A453G) in ALDH1A2 exon 4.