Table 2.
Summary of the data of human disease genes used for the ML analysis.
| Data Set | Disease | Recipient Genea | Analyzed Region | Sequence Identity | n (Sample Size) | Frequency of Patientsb |
|---|---|---|---|---|---|---|
| Gupta et al. [89,90] | von Willebrand disease types 2M & 3 | vWF (12pl3.3/22qll.22—qll.23) | intron 27 and exon 28 | 97% | 13 | < 1/500 (type 2M) 1/500,000 (type 3) |
| Friães et al. [91] | congenital adrenal hyperplasia | CYP21A2 (6p21.3, 30 kb) | exons 1 — 10 and flanking regions | 96—98% | 92 | 1/15,500—1/280 |
| Tayebi etal. [92] | Gauchar disease | GBA (lq21, 16 kb) | exons 3—11 | 96% | 34 | 1/1,000,000 —1/850 |
| Nicolis et. al. [93] | Shwachman- Diamond syndrome | SBDS (7qll, 305 kb) | exons 1—5 and junction of exon/intron | 97% | 25 | 1/100,000 |
| Boocock et. al. [88] | 235 |
a
The chromosomal positions of the donor and recipient genes are shown in the parentheses if they are located on different chromosomes. If they are on the same chromosome, the position of the recipient gene and the distance between the two genes are shown. Note that all donor genes are pseudogenes of each functional gene.
b
This frequency includes patients that are not caused by gene conversion.