Table 2.
MAPH, Microsatellite, SQ-FISH, and Cytogenetic Analyses of a Subset of Individuals[Note]
|
MAPH Analysisa |
Microsatellite EPEV-1 Analysis |
SQ-FISH Analysisb |
||||||||||
| Sample | nd | SPAG11(probe H) | DEFB4a(probe G) | DEFB4b(probe F) | Other 8pe | β-Defensin–ClusterCopy Number | Genotype | ApproximateDosage Ratio | BAC 51D11 Signal Intensity Ratio | YAC HTY3020 Signal Intensity Ratio | β-Defensin–ClusterAlleles | G-BandCytogeneticAnalysisof 8p23.1 EVc |
| Family 1: | ||||||||||||
| I:2 | 4 | ND | 12 ± 1.6 | 10 ± .54 | 2.0 ± .19 | 11 | 169,182,184,188 | 1:2:7:1 | ND | ND | … | Yes |
| II:3 | 2 | ND | 10 ± 1.2 | 9.1 ± .59 | 2.0 ± .49 | 9 | 169,182,184 | 2:1:6 | ND | ND | … | Yes |
| II:5 | 3 | 3.4 ± .18 | 4.0 ± .21 | 3.0 ± .18 | 1.7 ± .11 | 4 | 169,184,188 | 1:2:1 | ND | ND | … | No |
| II:8 | 4 | ND | 8.9 ± .41 | 8.8 ± .61 | 1.9 ± .30 | 9 | 169,182,184 | 2:1:6 | 1:3.9 (2.4–6.3) | 1:7.6f (5.5–10) | 1, 8 | Yes |
| II:11 | 2 | ND | 12 ± 2.8 | 10.3 ± 1.7 | 2.2 ± .39 | 11 | 169,182,184 | 4:2:5 | ND | ND | … | Yes |
| Family 2: | ||||||||||||
| I:1 | 2 | 8.8 ± .01 | 11 ± 0.27 | 8.1 ± .55 | 2.3 ± .19 | 9 | 182,184,186,188 | 3:4:1:1 | ND | 1:2.8 (1.9–4.1) | 2, 7 | Yes |
| I:2 | 4 | 4.5 ± .23 | 4.3 ± .31 | 4.4 ± .38 | 2.1 ± .26 | 4 | 169,182,184,190 | 1:1:1:1 | ND | 1:1.3 (1.1–1.7) | 2, 2 | No |
| II:2 | 4 | 9.3 ± .66 | 9.4 ± .89 | 8.6 ± .35 | 2.2 ± .49 | 9 | 169,182,184,186 | 1:4:3:1 | 1:2.4 (1.6–3.5) | 1:3.2 (2.1–4.7) | 2, 7 | Yes |
| III:3 | 4 | 9.1 ± 1.8 | 9.8 ± .74 | 10 ± 1.1 | 2.1 ± .13 | 9/10 | 169,182,184,186 | 1:3:3:2 | 1:3.0 (2.1–4.4) | 1:3.5f (2.8–5.2) | 2, 7 | Yes |
| Family 3: | ||||||||||||
| I:1 | 5 | 4.4 ± .42 | 4.2 ± .36 | 4.4 ± .29 | 2.1 ± .10 | 4 | 182,184,188,190 | 1:1:1:1 | 1:1.6 (1.3–2.0) | 1:1.3f (1.1–1.5) | 2, 2 | No |
| I:2 | 3 | ND | 14 ± 3.4 | 12 ± .16 | 2.3 ± .78 | 12 | 169,182,184,186,188 | 1:1:8:1:1 | 1:2.1 (1.9–2.3) | 1:1.9f (1.5–2.4) | 4, 8 | Yes |
| II:1 | 3 | 12 ± 1.2 | 11 ± .65 | 13 ± .29 | 2.1 ± .89 | 12 | 169,182,184,188 | 1:2:8:1 | 1:2.8 (2.2–3.7) | 1:2.3f (1.5–3.4) | 4, 8 | Yes |
| Unrelated individuals: | ||||||||||||
| J1 | 5 | 2.0 ± .096 | 2.0 ± .14 | 2.0 ± .11 | 2.0 ± .15 | 2 | 169 | … | ||||
| N005 | 5 | 3.0 ± .28 | 2.5 ± .33 | 3.1 ± .44 | 1.9 ± .28 | 3 | 169, 186 | 1:2 | ||||
| N008 | 5 | 3.4 ± .42 | 3.2 ± .27 | 3.3 ± .25 | 1.8 ± .10 | 3 | 182,186,188 | 1:1:1 | ||||
| N015g | 5 | 4.6 ± .25 | 3.9 ± .13 | 5.4 ± .48 | 1.9 ± .35 | 5 | 169,184,186,188 | 2:1:1:1 | ||||
| N025 | 3 | 6.5 ± .85 | 7.3 ± .85 | 7.1 ± .85 | 2.0 ± .13 | 7 | 169,182,184,186 | 2:1:2:2 | ||||
| N029 | 3 | 5.1 ± .34 | 5.6 ± .19 | 6.2 ± .34 | 2.0 ± .36 | 6 | 169,184,186, 190 | 1:3:1:1 | ||||
| Chimpanzeeh | 1 | 4.1 | ND | 4.2 | 2.1 ± 1.0 | 4 | 169 | … | ||||
| Gorillah | 1 | 1.4 | ND | 2.5 | 1.9 ± 1.2 | 2 | 186 | … | ||||
Note.— ND = not determined.
a
Dosage per diploid genome ± 95% confidence limits, with J1 or N005 as the standard reference.
b
Mean ratio (95% confidence limits).
c
Yes = presence of an 8p23.1 EV chromosome; No = normal chromosome 8.
d
Number of independent MAPH tests.
e
Excluding DEFA1.
f
Using YAC 820b4.
g
Heterogeneity of repeat unit (P<.01, by t test).
h
The large CIs seen in the gorilla and chimpanzee samples are due to dosage differences in reference subtelomeric probes as compared with humans.