Table 3. Haplotypes identified in 13 families harboring MSH2 exon 8 deletions.
Families | |||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
S.1 | S.2 | Non-Sardinian | |||||||||||||||||||||||||
Markers location on chr2: |
Markers |
A |
B |
C |
D |
E |
F |
G |
H |
L |
M |
N |
P |
Q |
|||||||||||||
47491193–47491212 | rs66719305 | 251 | 255 | 251 | 241 | 251 | 233 | 251 | 251 | 251 | 255 | 251 | 243 | (251) | (255) | 251 | 251 | 243 | 243 | 243 | 251 | 245 | 249 | 243 | 255 | 253 | 257 |
47601106 | rs1126497 | T | T | T | C | T | C | T | T | T | T | T | C | T | T | T | T | C | C | C | C | C | T | T | T | C | T |
47612866–47612867 | rs67972878a | — | — | — | GT | — | GT | — | — | — | — | — | GT | — | — | — | — | GT | GT | GT | GT | GT | — | — | — | (GT) | (—) |
47612878 | rs3924917 | G | G | G | A | G | G | G | G | G | G | G | A | G | G | G | G | G | G | G | A | A | G | G | G | (A) | (G) |
(47630206–47710360) | (MSH2) | e8 del | wt | e8 del | wt | e8 del | wt | e8 del | wt | e8 del | wt | e8 del | wt | e8 del | wt | e8 del | wt | e8 del | wt | e8 del | wt | e8 del | wt | e8 del | wt | e8 del | wt |
47763895 | rs748780 | T | T | T | C | T | C | T | T | T | T | (T) | (C) | T | T | T | T | T | T | T | T | T | T | T | T | C | T |
47778096 | rs6736039 | G | G | G | T | G | G | G | G | G | G | G | G | G | G | G | G | T | T | T | G | T | G | G | T | G | G |
47790611 | rs1863334 | G | T | G | T | G | T | G | G | G | T | G | G | (G) | (T) | G | G | T | T | T | G | T | T | G | T | T | G |
47801070–47801075 | rs72198494 | 270 | 264 | 270 | 270 | 270 | 264 | 270 | 270 | 270 | 266 | 270 | 270 | (270) | (266) | 270 | 270 | 264 | 264 | 264 | 270 | 270 | 264 | 266 | 264 | 270 | 270 |
47804572–47804589 | rs10525052 | 309 | 311 | 309 | 309 | 309 | 309 | 309 | 309 | 309 | 305 | 309 | 309 | (309) | (305) | 309 | 309 | 307 | 307 | 307 | 309 | 303 | 307 | 305 | 307 | 305 | 311 |
Abbreviation: Wt, wild-type.
rs67972878 is a two-nucleotide ins/del: GT/−. Alleles in brackets are of uncertain attribution.