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Table 2 MPLA analysis for deletion/duplication study of HEXA gene

From: Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

Patient ID

Deletions/ Duplications

No of Exons Deleted/ Duplicated

c MLPA probe ratio (Dosage quotient)

Clinical relevance

1

Homozygous deletions

2 (Exon 2 and 3)

0.0

Yes

2

Homozygous deletions

2 (Exon 2 and 3)

0.0

Yes

3a

Heterozygous deletion

1 (Exon 1)

0.5

Yes

4a

Heterozygous deletion

1 (Exon 1)

0.5

Yes

5b

Heterozygous duplication

1 (Exon 1)

1.3

Yes

  1. aCompound heterozygous with p.E462V as a second allele
  2. bCompound heterozygous with c.1527-2A > T as a second allele
  3. c>MLPA ratios (dosage quotient) of below 0.7 or above 1.3 are indicative of a deletion (copy number change from two to one) or duplication (copy number change from two to three), respectively. A dosage quotient of 0.0 indicates a homozygous deletion, 0.35 to 0.65 indicates heterozygous deletion, 1.3 to 1.55 indicates heterozygous duplication and 1.7 to 2.2 indicates homozygous duplication