Table 2.
The Genotypes of the Cases with Recombinations Studied
| Patient | Phenotype | Genotype⁎ | Site of cross over initiation | Southern blot | Real-time qPCR |
|---|---|---|---|---|---|
| 1, 6, 8 | Wild type | Normal controls (wt/wt) | |||
| 2 | Type 2 | p.Leu483Pro (L444P) + p.Glu365Lys (E326K)/ p.Leu483Pro (L444P)+ Rec F | MTX | Fusion in MTX | Fusion in MTX |
| 3 | Type 1 | p.Arg502Cys (R463C)/Rec F | Intron 9 | Fusion | Fusion of GBA and GBAP gene |
| 4 | Type 1 | p.Asn409Ser (N370S)/Rec F | Exon 10 | Normal | NA |
| 5 | Type 2 | c.1505 + 2T>A (IVS10 + 2)/Rec D | Exon 7 | Fusion | Partial GBA deletion |
| 7 | Type 2 | p.Arg296Gln (R257Q)/ RecΔ55 (c.1263-1317del) | Intron 8-exon 9 | Missing exon 9 site on Southern blot | 55-bp deletion (gene conversion) |
| 9 | Type 1 | p. Arg209Cys (R170C)/ p.Leu483Pro (L444P)+Rec G | 3′ UTR (PMTX) | Duplication in pseudogene | Duplication in pseudogene |
| 10 | Type 1 | c.222-224delTAC/Rec G | Intron 10-exon 11 | Duplication in pseudogene | Duplication in pseudogene |
GBA cDNA nucleotides (c.) are numbered designating the adenine of the first ATG translation initiation codon as the first nucleotide (GenBank reference sequence NM_000157). Amino acid designated with (p.) are based on the primary GBA translation product, including the 39-residue signal peptide. Recombinant alleles mentioned here are described in more detail in Tayebi et al and Hruska et al.8,9
NA, not available; wt, wild type.
⁎
Rec D: recombination at the end of exon 7. Rec F: recombination at the end of intron 9 or beginning of exon 10, Rec G: recombination in intron10-exon 11 or the 3′ untranslated region.