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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
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