# # Volga German AD pedigrees from # Levy-Lahad et al (1995) A familial Alzheimer's Disease locus # on chromosome 1. Science 269: 970-973 # and # Levy-Lahad et al (1995) Candidate gene for the chromosome 1 familial # Alzheimer's Disease locus # # Data from Family R from Fig 1. of Ref 1; others from Fig 1 of Ref 2. # # Family Affected DNA # H 8 4 # HB 23 30 # HD 19 20 # KS 14 29 # R 20 37 # W 4 4 # WFL 6 15 # set locus AD affection . Alzheimer's disease set locus confirmed affection . Autopsy confirmed AD set locus age qua . Age at onset or observation set locus APOE marker . APOE set loc D1S238 marker 186.412849 186412849 chr:1 set loc D1S237 marker 212.795947 212795947 chr:1 set loc D1S439 marker 223.844244 223844244 chr:1 set loc D1S479 marker 224.276302 224276302 chr:1 # Causative mutation PSEN2 g.3694A>T set locus N141I marker 225.124896 225124896 chr:1 PSEN2 (presenilin 2) set loc D1S225 marker 229.226723 229226723 chr:1 read pedigree inline BE 101 x x x n x x x/x x/x x/x x/x x/x x/x x/x BE 102 x x x n x x x/x x/x x/x x/x x/x x/x x/x BE 201 101 102 x n x x x/x x/x x/x x/x x/x x/x x/x BE 202 101 102 x n x 76 3/3 x/x x/x x/x F/F 1/1 x/x BE 203 101 102 x y x 57 x/x x/x x/x x/x x/x x/x x/x BE 204 101 102 x y x 58 x/x x/x x/x x/x x/x x/x x/x BE 205 101 102 x y x 62 3/3 x/x x/x x/x H/F 1/2 x/x E 101 x x x y x x x/x x/x x/x x/x x/x x/x x/x E 102 x x x n x 86 x/x x/x x/x x/x x/x x/x x/x E 201 101 102 x y x 61 x/x x/x x/x x/x x/x x/x x/x E 202 101 102 x y x 62 x/x x/x x/x x/x x/x x/x x/x E 203 101 102 x y x 57 x/x x/x x/x x/x x/x x/x x/x E 204 101 102 x y x 51 x/x x/x x/x x/x x/x x/x x/x E 205 101 102 x n x 70 x/x x/x x/x x/x x/x x/x x/x E 301 202 x x y x 52 x/x x/x x/x x/x H/F 1/2 x/x E 302 202 x x y x 52 3/3 x/x x/x x/x H/F 1/2 x/x H 304 203 204 x y x 56 3/3 x/x x/x x/x H/F 1/2 x/x H 307 203 204 x y x 68 3/3 x/x x/x x/x H/K 1/2 x/x HB 101 x x x n x x x/x x/x x/x x/x x/x x/x x/x HB 102 x x x n x x x/x x/x x/x x/x x/x x/x x/x HB 201 101 102 x n x x x/x x/x x/x x/x x/x x/x x/x HB 201 101 102 x n x x x/x x/x x/x x/x x/x x/x x/x HB 201 101 102 x n x x x/x x/x x/x x/x x/x x/x x/x HB 301 202 x x y x x x/x x/x x/x x/x x/x x/x x/x HB 302 x x x n x x x/x x/x x/x x/x x/x x/x x/x HB 303 203 x x n x x x/x x/x x/x x/x x/x x/x x/x HB 304 x x x n x x x/x x/x x/x x/x x/x x/x x/x HB 401 201 x x n x x x/x x/x x/x x/x x/x x/x x/x HB 402 301 x x y x 55 x/x x/x x/x x/x x/x x/x x/x HB 403 302 303 x y x 75 3/3 x/x x/x x/x H/I 1/2 x/x HB 404 304 303 x y x 55 3/3 x/x x/x x/x H/D 1/2 x/x HB 405 304 303 x y x 65 3/3 x/x x/x x/x H/I 1/2 x/x HD 101 x x x y x 70 x/x x/x x/x x/x x/x x/x x/x HD 102 x x x n x x x/x x/x x/x x/x x/x x/x x/x HD 201 101 102 x y x 55 x/x x/x x/x x/x x/x x/x x/x HD 202 101 102 x y x 67 x/x x/x x/x x/x x/x x/x x/x HD 203 101 102 x y x 53 x/x x/x x/x x/x x/x x/x x/x HD 301 201 x x y x 47 x/x x/x x/x x/x x/x x/x x/x HD 302 202 x x y x 75 3/4 x/x x/x x/x C/F 1/1 x/x HD 303 201 x x y x 51 x/x x/x x/x x/x x/x x/x x/x HD 401 301 31S x y x 60 3/3 x/x x/x x/x H/I 1/2 x/x HD 402 301 31S x y x 52 3/3 x/x x/x x/x H/I 1/2 x/x HD 403 303 x x y x 46 2/3 x/x x/x x/x H/I 1/2 x/x HD 501 401 x x y x 49 3/3 x/x x/x x/x H/I 1/2 x/x KS 101 x x x n x x x/x x/x x/x x/x x/x x/x x/x KS 102 x x x n x x x/x x/x x/x x/x x/x x/x x/x KS 201 101 102 x x x 70 x/x x/x x/x x/x x/x x/x x/x KS 202 x x x n x x x/x x/x x/x x/x x/x x/x x/x KS 203 101 102 x n x 77 x/x x/x x/x x/x x/x x/x x/x KS 204 x x x n x x x/x x/x x/x x/x x/x x/x x/x KS 301 101 102 x n x 60 x/x x/x x/x x/x x/x x/x x/x KS 302 101 102 x n x 44 x/x x/x x/x x/x x/x x/x x/x KS 303 101 102 x y x 59 x/x x/x x/x x/x x/x x/x x/x KS 304 201 202 x n x 90 x/x x/x x/x x/x x/x x/x x/x KS 305 203 202 x y x 71 3/3 x/x x/x x/x F/I 1/1 x/x KS 401 301 x x y x 68 3/4 x/x x/x x/x F/K 1/1 x/x KS 402 302 x x y x 67 4/4 x/x x/x x/x I/I 1/1 x/x KS 403 303 33S x y x 58 4/4 x/x x/x x/x I/I 1/1 x/x KS 404 303 33S x y x 71 3/4 x/x x/x x/x F/I 1/1 x/x KS 405 303 33S x y x 57 x/x x/x x/x x/x x/x x/x x/x KS 406 304 x x y x 67 3/4 x/x x/x x/x B/F 1/1 x/x R 101 x x x y x x x/x x/x x/x x/x x/x x/x x/x R 102 x x x n x x x/x x/x x/x x/x x/x x/x x/x R 201 x x x n x x x/x x/x x/x x/x x/x x/x x/x R 202 101 102 x y x x x/x x/x x/x x/x x/x x/x x/x R 203 101 102 x n x x x/x x/x x/x x/x x/x x/x x/x R 204 101 102 x n x 73 x/x x/x x/x x/x x/x x/x x/x R 205 101 102 x n x x x/x x/x x/x x/x x/x x/x x/x R 301 x x x n x 50 x/x x/x x/x x/x x/x x/x x/x R 302 201 202 x y x 52 x/x x/x x/x x/x x/x x/x x/x R 303 201 202 x y x 52 x/x x/x x/x x/x x/x x/x x/x R 304 x x x n x 81 x/x x/x x/x x/x x/x x/x x/x R 305 201 202 x n x 43 x/x x/x x/x x/x x/x x/x x/x R 306 x x x n x 88 x/x x/x x/x x/x x/x x/x x/x R 307 201 202 x n x 92 x/x x/x x/x x/x x/x x/x x/x R 308 201 202 x n x 85 x/x x/x x/x x/x x/x x/x x/x R 401 301 302 x y x 67 4/4 G/H I/G E/L G/I 1/2 E/L R 402 301 302 x y x 45 x/x x/x x/x x/x x/x x/x x/x R 403 301 302 x n x 85 3/4 G/E I/G E/I G/I 1/1 E/L R 404 301 302 x y x 44 x/x x/x x/x x/x x/x x/x x/x R 405 x x x n x x 3/3 J/H E/G H/H I/I x/x K/K R 406 301 302 x x x 50 x/x x/x x/x x/x x/x x/x x/x R 407 301 302 x y x 49 x/x x/x x/x x/x x/x x/x x/x R 408 x x x x x x x/x x/x x/x x/x x/x x/x x/x R 409 301 302 x y y 40 x/x x/x x/x x/x x/x x/x x/x R 410 301 302 x y x 50 x/x x/x x/x x/x x/x x/x x/x R 411 301 302 x y y 56 3/3 D/H G/G D/I H/I 1/2 K/L R 412 301 302 x y x 43 x/x x/x x/x x/x x/x x/x x/x R 413 301 302 x y y 45 x/x x/x x/x x/x x/x x/x x/x R 414 301 302 x n x 70 3/4 H/G G/I L/E I/G 1/1 L/E R 415 301 302 x y y 45 x/x x/x x/x D/L H/I x/x K/L R 416 301 302 x y x 54 4/4 D/E G/G D/I H/I 1/2 K/L R 417 303 304 x y x 64 x/x x/x x/x x/x I/H x/x M/K R 418 303 304 x y x 54 x/x x/x x/x x/x H/F x/x x/x R 419 303 304 x n x 42 x/x x/x x/x x/x x/x x/x x/x R 420 305 306 x y x 55 x/x x/x x/x x/x x/x x/x x/x R 421 305 306 x y x 47 x/x x/x x/x x/x x/x x/x x/x R 422 305 306 x n x 81 3/3 D/G E/A F/G G/I 1/1 F/K R 501 404 405 x y x 53 3/4 D/J G/E D/H H/I 1/2 E/K R 502 404 405 x n x 54 3/4 H/H G/G I/H I/I x/x L/K R 503 404 405 x y x 46 3/4 D/H G/G D/H H/I 1/2 L/K R 504 407 408 x y x 45 3/4 D/E G/G D/G H/F 1/2 K/J W 101 x x x y x 58 x/x x/x x/x x/x x/x x/x x/x W 102 x x x n x 62 x/x x/x x/x x/x x/x x/x x/x W 201 101 102 x y x 58 3/4 x/x x/x x/x H/F 1/2 x/x W 202 101 102 x n x 82 3/3 x/x x/x x/x B/F 1/1 x/x W 203 101 102 x y x 57 x/x x/x x/x x/x x/x x/x x/x W 204 101 102 x n x 74 3/4 x/x x/x x/x B/F 1/1 x/x W 205 101 102 x y x 48 3/4 x/x x/x x/x H/F 1/2 x/x W 301 203 x x y x 47 3/3 x/x x/x x/x H/F 1/2 x/x WFL 101 x x x y x 76 x/x x/x x/x x/x x/x x/x x/x WFL 102 x x x n x 53 x/x x/x x/x x/x x/x x/x x/x WFL 201 101 102 x y x 60 x/x x/x x/x x/x x/x x/x x/x WFL 202 101 102 x y x 60 x/x x/x x/x x/x x/x x/x x/x WFL 203 101 102 x n x 76 3/3 x/x x/x x/x F/H 1/1 x/x WFL 204 101 102 x y x 62 3/3 x/x x/x x/x F/H 1/1 x/x ;;;; run macro recode_D1S479 recode D1S479 A B C D E F G H I J K L M to \ 126 124 122 120 118 116 114 112 110 108 106 104 102 ;;;;