Patent EP-2108704-A1 (EP)
Inventor: NOETHEN MARKUS M
IPC: C12Q1/68
Filed: 2008-04-07
Abstract: The present invention relates to a genetic marker for androgenetic alopecia characterised in that the genetic marker is located in a chromosomal region of human chromosome 20p11 and wherein the genetic marker is selected from the group consisting of a single nucleotide polymorphism (SNP), variable number of tandem repeat (VNTR), microsatellites or short tandem repeats (STR). The invention also relates to a nucleic acid molecule selected from the group consisting of (a) a nucleic acid molecule consisting of at least 17 consecutive nucleotides of any one of SEQ ID NOs:1 to 292; wherein the at least 17 consecutive nucleotides contain an adenosine at position 201 of any one of SEQ ID NOs:1 to 77, a guanosine at position 201 of any one of SEQ ID NOs:78 to 149, a thymidine at position 201 of any one of SEQ ID NOs:150 to 219 or a cytidine at position 201 of any one of SEQ ID NOs:220 to 292; (b) a nucleic acid molecule the complementary strand of which hybridises under stringent conditions to the nucleic acid molecule of (a), wherein said nucleic acid molecule has at a position corresponding to position 201 of any one of SEQ ID NOs:1 to 77 an adenosine, corresponding to position 201 of any one of SEQ ID NOs:78 to 149 a guanosine, corresponding to position 201 of any one of SEQ ID NOs:150 to 219 a thymidine or corresponding to position 201 of any one of SEQ ID NOs:220 to 292 a cytidine; (c) a nucleic acid molecule identical to the nucleic acid molecule of (a) or (b) wherein each thymidine is replaced by uridine. Further, the invention also relates to a nucleic acid molecule selected from the group consisting of (a) a nucleic acid molecule consisting of at least 17 consecutive nucleotides of any one of SEQ ID NOs:1 to 292; wherein the at least 17 consecutive nucleotides contain an adenosine at position 201 of any one of SEQ ID NOs:78, 79, 83, 86, 87, 90, 91, 93, 94, 96, 98 to 109, 111, 112, 116 to 123, 126, 128 to 142, 144 to 149, 151, 155, 158 to 160, 162, 165, 176, 177, 182, 184, 204, 207, 212, 217, 221, 226, 228, 230, 232, 233, 235, 239, 242, 243, 251, 253, 254, 259, 261 or 264, a cytidine at position 201 of any one of SEQ ID NOs:3, 7, 25, 34, 35, 38, 39, 48, 50, 51, 54, 57, 67, 76, 80, 89, 95, 110, 114, 115, 125, 150,152, 154, 156, 157, 164, 166, 168 to 175, 179 to 181, 183, 185, 188 to 191, 193, 195 to 203, 205, 206, 208 to 211, 213 or 215, a guanosine at position 201 of any one of SEQ ID NOs:1, 2, 4, 5, 8 to 11, 13, 14, 16, 18, 20 to 23, 26 to 28, 30 to 33, 36, 37, 41 to 47, 49, 52, 53, 55, 56, 60 to 66, 68 to 75, 77, 153, 161, 163, 167, 178, 186, 187, 192, 194, 214, 216, 218 to 220, 222 to 224, 236, 241, 245, 252, 266, 273 to 275, 277, 279 or 284 or a thymidine at position 201 of any one of SEQ ID NOs:6, 12, 15, 17, 19, 24, 29, 40, 58, 59, 81, 82, 84, 85, 88, 92, 97, 113, 142, 127, 143, 225, 227, 229, 231, 234, 237, 238, 240, 244, 246 to 250, 255, 256 to 258, 260, 262, 263, 265, 267 to 272, 276, 278, 280 to 283, 285 to 292; (b) a nucleic acid molecule the complementary strand of which hybridises under stringent conditions to the nucleic acid molecule of (a), wherein said nucleic acid molecule has at a position corresponding to position 201 of any one of SEQ ID NOs: SEQ ID NOs:78, 79, 83, 86, 87, 90, 91, 93, 94, 96, 98 to 109, 111, 112, 116 to 123, 126, 128 to 142, 144 to 149, 151, 155, 158 to 160, 162, 165, 176, 177, 182, 184, 204, 207, 212, 217, 221, 226, 228, 230, 232, 233, 235, 239, 242, 243, 251, 253, 254, 259, 261 or 264 an adenosine, corresponding to position 201 of any one of SEQ ID NOs:3, 7, 25, 34, 35, 38, 39, 48, 50, 51, 54, 57, 67, 76, 80, 89, 95, 110, 114, 115, 125, 150,152, 154, 156, 157, 164, 166, 168 to 175, 179 to 181, 183, 185, 188 to 191, 193, 195 to 203, 205, 206, 208 to 211, 213 or 215 a cytidine, corresponding to position 201 of any one of SEQ ID NOs:1, 2, 4, 5, 8 to 11, 13, 14, 16, 18, 20 to 23, 26 - to 28, 30 to 33, 36, 37, 41 to 47, 49, 52, 53, 55, 56, 60 to 66, 68 to 75, 77, 153, 161, 163, 167, 178, 186, 187, 192, 194, 214, 216, 218 to 220, 222 to 224, 236, 241, 245, 252, 266, 273 to 275, 277, 279 or 284 a guanosine or corresponding to position 201 of any one of SEQ ID NOs: 6, 12, 15, 17, 19, 24, 29, 40, 58, 59, 81, 82, 84, 85, 88, 92, 97, 113, 142, 127, 143, 225, 227, 229, 231, 234, 237, 238, 240, 244, 246 to 250, 255, 256 to 258, 260, 262, 263, 265, 267 to 272, 276, 278, 280 to 283, 285 to 292 a thymidine; (c) a nucleic acid molecule identical to the nucleic acid molecule of (a) or (b) wherein each thymidine is replaced by uridine. The invention also relates to methods for testing for a predisposition or presence of androgenetic alopecia comprising testing a sample obtained from a prospective patient or from a person suspected of carrying a predisposition for androgenetic alopecia. Further, the invention relates to a diagnostic composition for the detection of androgenetic alopecia or a predisposition therefore as well as to a kit.