Table 1.
The Genotypes of the Markers in all Carriers and Affected Individuals[Note]
| Subject | MHB001(bp) | SNP T/C | MHB003 | MHB002(bp) | Notes |
| N1 | 466/466 | C | (CA)15 | 370/370 | Affected |
| N2 | 464/466 | C | (CA)15 | 370/370 | Carrier N4 parent |
| N3 | 464/466 | C | (CA)15 | 370/370 | Carrier N4 parent |
| N4 | 466/466 | C | (CA)15 | 370/370 | Affected |
| N5 | 466/466 | C | (CA)15 | 370/370 | Affected |
| JJDa | 464/466 | C | (CA)15 | 370/370 | Carrier |
| JJSa | 464/466 | C | (CA)15 | 370/370 | Carrier |
| 4C | 462/466 | C | (CA)15 | 370/370 | Carrier |
| Nav4 | 466/462 | C | (CA)15 | 370/370 | Carrier |
| NM9 | 466/458 | C | (CA)15 | 370/370 | Carrier |
| NN2 | 462/464 | C | (CA)15 | 370/370 | Carrier |
| NN13 | 462/466 | C | (CA)15 | 370/370 | Carrier |
Note.— The study includes a group of three homozygotes and nine carriers, among whom the three homozygotes are unrelated to one another and the six carriers are not related. (Two carriers [N2 and N3] were not included in the carrier screening, because their status as obligate carriers had been known from their affected child, N4.) The marker MHB003 and the SNP were only genotyped in deletion-bearing chromosomes.
a
JJD is the father of JJS.