Table 2

Haplotype of genetic interval spanning the cathepsin C gene locus

(A) Haplotype associated with recurrent CTSC mutations
STRP ID
x766 x767 x769 x770 x235 p7 p22 p701 p29 p78 p-T2-150 x914 p70 p53
D11S937171/173159/159159/159161/169163/177163/163159/159146/146161/173173/173159/165163/163159/169159/175
D11S4147245/245245/245245/245237/237239/241243/243239/239241/241 243/243 243/243 227/237237/237239/247241/243
D11S1887 237/237 237/237 237/237 237/237 253/257239/239241/241245/245 237/237 237/237 237/243241/241237/237245/245
D11S1780 281/281 281/281 281/281 281/281 289/289271/271271/271281/281 289/289 289/289 271/281281/281289/289289/289
CTSC-01 310/310 310/310 310/310 310/310 310/310 310/310 310/310 310/310 306/306 306/306 310/310314/314318/318310/310
CTSC-5′ 360/360 360/360 360/360 360/360 346/346 352/352 352/352 352/352 336/336 336/336 344/352 352/352 356/360360/360
CTSC-Int3 241/241 241/241 241/241 241/241 241/241 241/241 241/241 241/241 245/245 245/245 247/247 247/247 247/247243/243
CTSCmutation R272P/ R272P/ R272P/ R272P/ R272P/ W429X/ W429X/ W429X/ Q286X/ Q286X/ del in ex2/T153I T153I/ R339C/R339C/
R272P R272P R272P R272P R272P W429X W429X W429X Q286X Q286X T153I R339CR339C
CTSC-3′ 373/373 373/373 373/373 373/373 371/371 363/363 363/363 363/363 363/363 363/363 347/373 373/373 377/377369/369
CTSC-02 160/160 160/160 160/160 160/160 160/160 160/160 160/160 160/160 154/154 154/154 154/160 160/160 160/160150/150
CTSC-03195/195193/193193/193195/195195/195 205/205 205/205 205/205 195/195 195/195 195/195201/201203/203209/209
D11S1367249/253249/249245/249241/245233/237233/233233/233233/241 233/233 233/233 233/233229/241237/237245/245
D11S1358279/279279/279273/273279/279275/275277/277277/277277/277 277/277 277/277 279/281279/279273/273283/283
(B) Haplotype associated with unique CTSC mutations
ID
STRP x240 p706 IR1 p27 x768 p-P2-150 IR19 IR82-151 x236 IR11 p76 p5 p19
D11S937157/157159/173161/161167/171149/159159/159167/167163/163159/167161/171159/159161/161155/155
D11S4147243/243241/243245/245239/239239/239227/227239/239239/239227/227243/243235/235237/237241/241
D11S1887241/241237/239237/237239/239243/243253/253243/243239/239251/251249/249237/237237/237237/237
D11S1780273/273287/287273/273271/271271/271273/2812-152 281/281263/263271/271275/275281/281281/281271/271
CTSC-01308/308306/306308/308310/310310/310314/3182-152 310/310310/310310/310310/310310/310314/314320/320
CTSC-5′346/346332/332342/342356/356357/357350/3542-152 352/352362/362346/346354/354348/348352/352360/360
CTSC-Int3247/247243/243241/241247/249243/243247/247247/247241/241247/247243/243247/247247/247241/241
CTSCmutationins in ex3/ins in ex4/W235X/R250X/G300D/G300S/G301V/G301S/Y304N/E319G/Y340C/del in ex7/del in ex7/
ins in ex3ins in ex4W235XR250XG300DE447GG301VG301SY304NE319GY340Cdel in ex7del in ex7
CTSC-3′349/349365/365363/363347/347361/361347/347347/347363/363363/363347/347347/347375/375369/369
CTSC-02154/154154/154154/154162/162154/154148/1562-152 154/154154/154160/160152/152164/164160/160160/160
CTSC-03201/201197/197201/201205/205197/197197/2052-152 199/199213/213205/205195/195207/207201/201203/203
D11S1367237/237233/233229/241221/221249/249229/229233/253245/245229/229241/241233/233229/229233/233
D11S1358281/281279/279279/279279/279281/281279/2812-152 273/273281/281281/281277/277273/273279/279273/273
  • 2-150 Compound heterozygous for CTSCmutation.

  • 2-151 Toomes et al 7 have also identified a family with this mutation.

  • 2-152 The mutation specific haplotype not determined.

  • Syntenic regions of shared haplotypes are in bold.