Table 2.
Summary of Polymorphism Analyses[Note]
|
Allele or Polymorphism Position |
||||||
| Family A |
Family B |
|||||
| Locusa | Polymorphismb | DaughterLWD (+) | MotherLWD (+) | DaughterLWD (+) | FatherLWD (+) | MotherLWD (−) |
| SHOX (CA)nc | MS (CA)n | 141/153 |
141/149 |
149 | 149/153 |
149/153 |
| SHOXa/b +3/1239d | SNP (C/G) | C | C | G | C/G |
NE |
| SHOXa/b +3/1248d | SNP (G/A) | G | G | A | A/G |
NE |
| SHOX-SNP657e | SNP (G/A) | A | A/G |
NE | NE | NE |
| SHOX-SNP792f | SNP (T/G) | T/G |
T | T | T | T |
| rs5988407 | SNP (C/T) | C | T | NE | NE | NE |
| rs7055778 | SNP (G/A) | A | A | NE | NE | NE |
| rs5946324g | SNP (C/G) | G | G | G | G/C |
G/C |
| rs5946325g | SNP (C/T) | T | T | T | T | NE |
| rs5946326g | SNP (G/A) | G | G | A | G | NE |
| rs5988281g | SNP (C/G) | C | C | G | C | NE |
| rs5946329g | SNP (C/T) | C | C | T | C | NE |
| rs5988432g | SNP (C/T) | C | C | C | C | NE |
| rs5946331g | SNP (G/A) | G | G | A | G | NE |
| rs5988437g | SNP (C/G) | C | G | G | C | NE |
| rs6644384g | SNP (G/A) | A | A | NE | NE | NE |
| rs5946336g | SNP (G/A) | A | A | G | A | NE |
| rs7067102g | SNP (G/A) | NE | NE | A | A | NE |
| rs5946533g | SNP (C/T) | NE | NE | T | C | NE |
| rs4504827g | SNP (T/A) | T | T | T/A |
T/A |
NE |
| rs5988299g | SNP (C/T) | NE | NE | C | C | NE |
| rs5988300g | SNP (G/A) | NE | NE | G | A/G |
NE |
| rs5988301g | SNP (C/G) | NE | NE | G | G/C |
NE |
| rs5988494g | SNP (C/G) | NE | NE | C | C | NE |
| DXYS233g | MS (CA)n | 273 | 279 | 273 | 273/283 |
273/279 |
| rs4468091 | SNP (G/A) | G | G | G | G | A/G |
| rs5946712 | SNP (G/A) | G | G | G | G | G |
| DXYS85 | 4-bp ins/del | 82 | 78/82 |
78/82 |
82 | 78/82 |
Note.— The loci present in two copies are underlined, and those not shared by the LWD-affected proband and parent are in bold italics. A plus sign (+) = affected; a minus sign (−) = not affected; NE = not examined.
a
SHOXa/b +3/1239 and SHOXa/b +3/1248 are based on the Polymorphisms around SHOX Database, SHOX-SNP657 and SHOX-SNP792 are based on the study by Flanagan et al. (2002), and the remaining loci are based on dbSNP and dbSTS databases.
b
MS = microsatellite.
c
Located in the SHOX 5′ UTR.
d
Located between exon 6a inherent to SHOXa and exon 6b specific to SHOXb.
e
Silent polymorphism on exon 6b.
f
Located in the SHOX 3′ UTR.
g
Loci included in the RP13-167H21 BAC probe used for FISH analysis.