Table 1. Parallel mutations in B. cenocepacia ST32 sputum populations from 12 chronically infected, non-CS patients.
| Patient | Sex | Duration of chronic infection | Point mutations, indels (% ST32 population)* | Structural variations§ | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MoeA1 | YedY | KatG | RpoB | CusS | BCAL0155 | TQ36_15160 | TQ36_15180 | TQ36_25385 | CopC/CopD | |||
| I | M | 16 yrs. | • 72Y→H (98) • 219Y→H (15) • 383G→D (4) |
• 10V→A (6) • 116V→A (53) • 143V→A (15) • 165E→G (12) • 231N→S (5) • 239V→A (2) • 321M→V (14) |
• - | • 203V→A (3) • 352Y→H (3) • 398E→K (17) |
• - | • 370F→S (n.d.) • del I (n.d.) • del II (n.d.) • del V (n.d.) |
0 | 0 | WT | WT |
| II | F | 17 yrs. | • del I (100) • 391fs (3) |
• - | • 189L→R (100) | • 254E→K (75) | • - | • 220fs (7) • 239D→V (2) • del III (n.d.) • del V (n.d.) |
WT | IS | IS | WT |
| III | M | 20 yrs. | • 250L→R (3) • 20del II (18) |
• 213N→S (100) | • - | • 177F→L (75) • 348D→E (9) |
• 193A→V (11) | • del VI (7) | WT | WT | WT+IS | WT+IS |
| IV | M | 14 yrs. | • 241G→S (9) • 277D→N (9) • 304C→R (2) |
• 225Q→R (3) | • - | • - | • - | • 82G→S (24) • 161W→R (24) • 270H→R (14) |
WT+IS | WT+IS | IS | WT+IS |
| V | F | 18 yrs. | • 59F→L (88) | • 165E→G (3) • 325M→V (9) |
• - | • 129M→V (3) • 341T→A (2) • 343Y→C (15) |
• - | • 82G→D (15) • 214L→P (13) • 216D→G (18) • 268E→K (17) • 270H→R (16) • 290L→P (8) |
0 | 0 | WT+IS | WT |
| VI | F | 22 yrs. | • - | • - | • - | • 464G→E (100) | • 241D→N (97) | • - | WT | 0 | WT | 0 |
| VII | M | 16 yrs. | • del III (100) | • 172P→L (99) | • - | • 351P→L (99) | • 354T→M (3) | • 244R→C (77) • 253delLVDAHI (2) • 338fs (5) |
IS | WT | IS | WT |
| VIII | M | 20 yrs. | • 59F→L (23) • del IV(73) • del V (43) • 323P→L (8) |
• 8R→C (3) • 21I→V (2) • 159I→N (9) • 162P→A (4) • 233A→V (30) • 319A→V (13) • 326D→N (10) |
• - | • 273K→E (3) • 409M→V (76) |
• 146C→Y (4) • 431M→I (3) |
• 216D→G (3) • 262P→L (24) • del IV (45) |
WT+IS | WT | WT+IS | WT |
| IX | F | 12 yrs. | • 142fs (95) | • 22T→A (24) • 247S→N (6) • 325M→V (27) |
• - | • - | • 292M→V (48) | • del III (n.d.) • del V (n.d.) |
IS | WT | IS | 0 |
| X | F | 9 yrs. | • 266V→A (99) | • 165E→G (100) | • - | • 345N→S (6) | • 27G→R (20) • 36L→P (16) • 287V→A (5) • 337H→Q (2) • 357L→P (9) • 380L→P (59) • 433Gdel (16) |
• 295P→L (55) • 343D→G (22) |
0 | 0 | WT | WT |
| XI | M | 17 yrs. | • 298P→S (100) | • 129D→N (100) | • 189L→R (100) | • - | • 4S→L (98) | • del V (7) | 0 | 0 | IS | WT+IS |
| XII | M | 19 yrs. | • 99G→C (91) • 271delVSVG (7) |
• 2W→C (91) | • - | • 455G→S (83) | 329E→K (9) | • del V (100) | 0 | 0 | WT | WT |
| Total patients affected$ | 9 | 8 | 2 | 6 | 3 | 9 | 9 | 8 | 8 | 5 | ||
| oxidative stress protection | transition metal metabolism | |||||||||||
*Point mutations and small indels in ST32 population were determined by DPS; their frequencies are denoted in parentheses (average values for two replicate experiments performed on the same sputum DNA template, cut-off: 2%). Identical deletions between repeats are denoted by the same Roman numerals. Population frequencies of overlapping deletions could not be determined (n.d.).
§Structural variations were determined by agarose gel electrophoresis: 0 –no PCR amplification (deletion), IS–PCR fragment of increased length (IS insertion), WT–PCR fragment of length corresponding to intact gene, WT+IS–mixed population (PCR fragments of both lengths).
$Sum of patients with point mutations and indels detected in over 50% population, or structural variations detected by electrophoresis. The corresponding results are in bold.