probes on the chip | candidate region | Locus | average space selected | boundaries selected (kb) | # of probes | reason for selectinga | references |
---|---|---|---|---|---|---|---|
selected | RET | 10q11.2 | 300 nt | 100 kb | 813 | linkage, mutation, association | [1] |
9q31 | 9q31 | 2.5 kb | 0 kb | 1824 | linkage | [3] | |
9p24.1 | 9p24.1 | 3.5 kb | 0 kb | 142 | preliminary data | unpublished | |
PHOX2B | 4p13 | 500 nt | 10 kb | 49 | association, transcriptional, HSCR increased prevalence | ||
NRG1 | 8p12 | 500 nt | 10 kb | 473 | association | ||
SEMA3A/3D | 7q21.11 | 2.5 kb | 10 kb | 508 | association | ||
6q25.1 | 6q25.1 | 3.5 kb | 0 kb | 714 | preliminary data | unpublished | |
21q22 | 21q22 | 50 kb | 0 kb | 202 | HSCR increased prevalence | [1] | |
3p21 | 3p21 | 3.5 kb | 0 kb | 1141 | linkage | [4] | |
19q12 | 19q12 | 3.5 kb | 0 kb | 1085 | linkage | [4] | |
NRTN | 19p13.3 | 800 nt | 5 kb | 18 | mutation | [1] | |
16q23.3 | 16q23.3 | 3.5 kb | 0 kb | 714 | linkage | [23] | |
NKX2–1 | 14q13 | 800 nt | 5 kb | 17 | transcriptional, mutation | [24] | |
SOX10 | 22q13 | 800 nt | 5 kb | 27 | transcriptional | [1] | |
22q11.2 | 22q11.2 | 50 kb | 0 kb | 162 | HSCR increased prevalence | [25] | |
ECE1 | 1p36.1 | 800 nt | 5 kb | 103 | mutation | [1] | |
ZEB2 | 2q22.3 | 800 nt | 0 kb | 165 | mutation | [1] | |
EDNRB | 13q22 | 800 nt | 5 kb | 112 | linkage, mutation | [1] | |
GDNF | 5p13.1-p12 | 800 nt | 5 kb | 42 | mutation | [1] | |
EDN3 | 20q13.2-q13.3 | 800 nt | 5 kb | 44 | mutation | [1] | |
genome | 3130 | ||||||
replicated | 301 (×5) | ||||||
normalization | 1262 | ||||||
Agilent controls | 1482 |