1. An electronic information device comprising a transceiver, a memory and a processor for performing at least one function; the transceiver is arranged to exchange information, stored in the memory, with a remote communication station; the memory being arranged to store at least identification data relating to the user and travel itinerary data including third party transportation data; the processor being arranged to output, using the transceiver, at least one of the identification data and the travel itinerary data for processing by the remote communication station.
2. An electronic information device as claimed in claim 1, in which the processor is arranged to output the data in response to actuation of an input device of the electronic information device.
3. An electronic information device as claimed in any preceding claim, in which the processor is arranged to output the data in response to receipt, by the transceiver, of a signal issued by the remote communication station.
4. An electronic information device as claimed in claim 3, further comprising a radio antenna via which the transceiver receives the signal.
5. An electronic information device as claimed in claim 3, further comprising at least one electrical contact via which the transceiver receives the signal.
6. An electronic information device as claimed in claim 1, further comprising means for requesting input of data to validate at least one of the identification data and the travel itinerary data.
7. An electronic information device as claimed in claim 1, further comprising a speaker for outputting an audible tone in response to receipt of a second signal by the transceiver.
8. A electronic information device as claimed in claim 1 in which the travel itinerary data comprises at least one of check-in status data, baggage check-in data, transport time table data and transport class data.
9. An electronic information device as claimed in claim 1, further comprising a visual display for displaying data.
10. An electronic information device as claimed in claim 9, in which the processor is arranged to display directions to be followed to guide a user throughout a building.
11. An electronic information device as claimed in claim 9, in which the data output to the visual display comprises instructions to proceed to an identified location within a building.
12. An electronic information device as claimed in claim 1, in which the device is one of a smart card, a portable computer, a personal digital assistant or a mobile telephone.
13. A passenger management system comprising at least one transceiver, disposed so as to be effective within a building, operable under the control of data received from a monitoring station to at least receive data transmitted by an electronic information device of a user or to transmit data to the electronic information device for output to the user; the electronic device being within the building.
14. A passenger management system as claimed in claim 13, in which the transceiver is at least one of an induction loop based transceiver, a radio-wave transceiver, a card-chip reader or a magnetic card reader.
15. A passenger management system as claimed in claim 13, further comprising a plurality of transceiver geographically distributed throughout the building.
16. A passenger management system as claimed in claim 15, in which at least one of the transceivers is located at a check-in desk of an airport; the transceiver being arranged automatically to interrogate the electronic information device when that device is within the vicinity of the check-in desk transceiver; and to report any data collected from the device in response to the interrogation to a data base accessible from the monitoring station.
17. A passenger management system as claimed in claim 16, further comprising means for receiving from at least a portion of the transceivers, with which the electronic device must register or pass, data indicating the occurrence of the registration of the electronic device.
18. A passenger management system as claimed in claim 13, further comprising a plurality of announcement speakers geographically distributed throughout the building and means, responsive to detecting the presence of the electronic device within a region served by a specific announcement speaker, for selectively activating that specific announcement speaker to convey an audible message to the user of the electronic device.
19. A passenger management system as claimed in claim 13, further comprising a plurality of transceivers geographically distributed throughout the building and means, responsive to detecting the presence of the electronic device within a region of the building serviced by a specific transceiver, for selectively activating that transceiver to convey a message to the user of the electronic device.
20. A computer program element comprising computer program code for implementing a method as claimed in claim 1.
21. A computer program element comprising computer program code for implementing a system as claimed in claim 13.
22. A computer program product comprising a computer readable storage medium having stored thereon a computer program element as claimed in claim 20.
23. A passenger management system comprising at least one transceiver, disposed so as to be effective within a building, operable under control of data received from a monitoring station to at least receive data transmitted by an electronic information device of a user or to transmit data to the electronic information device for output to the user; the electronic device being within the building, and wherein at least one of the transceivers is located in proximity to an airport check-in desk and further being arranged to automatically interrogate the electronic information device when that device is within the vicinity of the check-in desk transceiver; and to report any data collated from the device in response to the interrogation to a database accessible from the monitoring station.
24. A passenger management system according to claim 23, further comprising a plurality of transceivers geographically distributed through the building and means, responsive to detecting the presence of the electronic device within a region of the building serviced by a specific transceiver, for selectively activating that transceiver to convey a message to the user of the electronic device or to derive data from the electronic device for subsequent processing by the remote monitoring station.
The claims below are in addition to those above.
All refrences to claim(s) which appear below refer to the numbering after this setence.
1. A method of diagnosing cleft lip andor palate or other disease states associated with IRF6 dysfunction or dysregulation in a subject, comprising:
obtaining a biological sample from said subject; and
detecting a polymorphism in a IRF6 nucleic acid, wherein the presence of a polymorphism associated with cleft lip andor palate or other disease state
associated with an IRF6 dysfunction or dysregulation.
2. The method of claim 1, wherein said polymorphism is in exons 2-9 of said IRF6 encoding nucleic acid.
3. The method of claim 1, wherein said nucleic acid is a sequence which encodes a polypeptide sequence comprising amino acids 13-113 of SEQ ID NO:2, wherein said polypeptide comprises at least one polymorphism associated with an IRF6 dysfunction or dysregulation.
4. The method of claim 1, wherein said nucleic acid is a sequence which encodes a polypeptide sequence comprising amino acids 226-394 of SEQ ID NO:2, wherein said polypeptide comprises at least one polymorphism associated with an IRF6 dysfunction or dysregulation.
5. The method of claim 3, wherein said polymorphism is a change from an arginine to cysteine at amino acid residue 84 (Arg84Cys).
6. The method of claim 3, wherein said polymorphism is a change from an arginine to histidine at amino acid residue 84 (Arg84His).
7. The method of claim 5, wherein said polymorphism is characterized by a loss of contact with a DNA binding domain of IRF6.
8. The method of claim 6, wherein said polymorphism is characterized by a loss of contact with a DNA binding domain of IRF6.
9. A method of diagnosing an IRF6 dysfunction or dysregulation in a subject, said method comprising:
obtaining a biological sample from said subject;
detecting the presence of at least one polymorphism as set forth in Table 1 in IRF6 in said sample, wherein the presence of said polymorphism is indicative of said subject having an IRF6 dysfunction or dysregulation.
10. A method of diagnosing a susceptibility or propensity to Van der Woude syndrome, Poplitieal pterygium syndrome, or isolated cleft lip andor palate in a subject, comprising:
obtaining a biological sample from said subject; and
detecting a polymorphism in an IRF6 encoding nucleic acid present in said sample, wherein the presence of said polymorphism in is indicative of said subject being susceptible to or having a propensity for Van der Woude syndrome, Poplitieal pterygium syndrome, or isolated cleft lip andor palate.
11. A method of diagnosing a susceptibility to Van der Woude syndrome, Poplitieal pterygium syndrome, or isolated cleft lip andor palate, comprising
obtaining a biological sample from said subject; and
detecting an alteration in the activity of a polypeptide encoded by an IRF6 gene in a test sample, in comparison with the activity of a polypeptide encoded by IRF6 gene in a control sample, wherein the presence of an alteration in activity of the polypeptide in the test sample is indicative of a susceptibility to Van der Woude syndrome, Poplitieal pterygium syndrome, or isolated cleft lip andor palate.
12. A method for screening a subject predisposed or susceptible an IRF6-related disorder associated with a genetic polymorphism in the IRF6 gene, said method comprising:
providing a biological sample from the subject; and
testing the sample for the presence of one or more nucleotide mutations from nucleotide positions 1-2171 of SEQ ID NO: 1, wherein, the presence of the mutation indicates that the subject is genetically predisposed to an IRF6-related disorder.
13. A method of diagnosing susceptibility to isolated cleft lip andor palate in a subject, comprising:
obtaining a biological sample from said subject; and
detecting a polymorphism in a IRF6 gene product, wherein the presence of an amino acid change from a valine to an isoleucine at amino acid residue 274 (Val274Ile) in said gene product is indicative of said subject having a susceptibility to isolated cleft lip andor palate.
14. A method for diagnosing susceptibility to isolated cleft lip andor palate in an individual, comprising:
screening for an at-risk genotype in a IRF6 nucleic acid that is more frequently present in an individual susceptible to isolated cleft lip andor palate (affected), compared to the frequency of its presence in a healthy individual (control), wherein the presence of the at-risk genotype is indicative of a susceptibility to isolated cleft lip andor palate.
15. The method of claim 14, wherein said at-risk genotype is characterized as a VV genotype at allele 274 of an IRF6 gene product.
16. A method for diagnosing an individual at-risk for isolated cleft lip andor palate associated with a V allele in an IRF6 gene product comprising:
providing a biological sample from said individual;
determining the genotype of said individual at nucleic acid corresponding to a V274I site of an IRF6 gene product, wherein an individual with two valine encoding alleles at the nucleic acid corresponding to said V274I site possess an at-risk genotype associated with isolated cleft lip andor palate.
17. The method of claim 16, wherein a valinevaline (VV) encoding genotype is at an increased risk of isolated cleft lip andor palate than an individual with an isoleucineisoleucine (II) encoding genotype.
18. The method of claim 16, wherein a valinevaline (VV) encoding genotype is at an increased risk of isolated cleft lip andor palate than an individual with a valineisoleucine (VI) encoding genotype.
19. A method for screening a subject predisposed or susceptible to Van der Woude syndrome, Poplitieal pterygium syndrome, or isolated cleft lip andor palate associated with a genetic polymorphism in the IRF6 gene, said method comprising:
providing a biological sample from the subject; and
testing the sample for the presence of one or more nucleotide mutations from nucleotide positions 1-2171 of SEQ ID NO: 1, wherein, the presence of the mutation as shown in Table 1 indicates that the subject is genetically predisposed to Van der Woude syndrome, Poplitieal pterygium syndrome, or isolated cleft lip andor palate.
20. A method of determining a risk for an IRF6 dysfunction or dysregulation or propensity thereto in a subject, said method comprising:
obtaining a biological sample from said subject;
analyzing the IRF6 nucleic acid in said sample; and
determining the presence of at least one mutation as set forth in Table 1 of IRF6, wherein the presence of said mutation is indicative of a risk for an IRF6 dysfunction or dysregulation or propensity thereto in said subject.
21. The method of claim 20, wherein said IRF6 dysfunction or dysregulation is selected from the group consisting of: Van der Woude syndrome, Poplitieal pterygium syndrome, and isolated cleft lip andor palate.
22. A method of identifying a polymorphism associated with an IRF6 dysfunction or dysregulation comprising:
isolating a nucleic acid of SEQ ID NO:1 from a plurality of subgroup of subjects, wherein one subgroup has no prevalence for a IRF6 associated disease and at least one or more subgroups which do have a prevalence for a IRF6 associated disease; and
identifying a polymorphism as set forth in Table 1 by comparing the nucleotide sequence of the nucleic acid of the one subgroup having no prevalence for an IRF6 associated disease with the at least one or more subgroups having a prevalence for an IRF6 associated disease.
23. A method of detecting a polymorphism associated with an IRF6 dysfunction or dysregulation comprising:
obtaining a biological sample from said subject; and
detecting a nucleic acid molecule comprising an IRF6 nucleic acid having the nucleotide sequence of SEQ ID NO:1 and comprising at least one polymorphism as shown in Table 1.
24. The method of claim 23, wherein said IRF6 dysfunction or dysregulation is selected from the group consisting of: Van der Woude syndrome, Poplitieal pterygium syndrome, and isolated cleft lip andor palate.
25. A method of identifying an agent which modulates activity of a polypeptide encoded by an IRF6 nucleic acid, wherein said polypeptide comprises an amino acid sequence as depicted in SEQ ID NO:2 and comprises at least one polymorphism as shown in Table 1 comprising:
contacting said polypeptide variant with an agent to be tested;
assessing the level of activity of the IRF6 variant polypeptide; and
comparing the level of activity with a level of activity of said variant polypeptide in the absence of the agent, wherein if the level of activity of the polypeptide in the presence of the agent differs, by an amount that is statistically significant from the level in the absence of the agent, then the agent is an agent that modulates activity of a variant IRF6 polypeptide.
26. A method of identifying an agent which alters expression of a variant IRF6 nucleic acid, comprising:
contacting a variant nucleic acid comprising SEQ ID NO:1 and comprising at least one polymorphism at shown in Table 1 with an agent to be tested;
assessing the level of expression of said variant nucleic acid; and
comparing the level of expression with a level of expression of said variant nucleic acid in the absence of the agent, wherein if the level of expression of the nucleotide in the presence of the agent differs, by an amount that is statistically significant, from the expression in the absence of the agent, then the agent is an agent that alters expression of a variant IRF6 nucleic acid.
27. A method of identifying and obtaining an inhibitor of the activity of a polypeptide, or a derivative, or fragment thereof comprising the amino acid sequence of SEQ ID NO:2 which comprises at least one polymorphism as shown in Table 1, comprising:
contacting said polypeptide, or derivative, or fragment thereof with a test agent for inhibiting activity, in the presence of compounds that provide a detectable symbol in response to test agent activity; and
detecting the presence or absence of a signal or increase or decrease of a signal generated from inhibiting activity, wherein the absence or decrease of the signal is indicative inhibiting activity of said polypeptide.
28. The method of claim 1, wherein said detecting comprising contacting said sample with a solid support under conditions allowing interaction of said IRF6 nucleic acid to said immobilized targets on said solid support.
29. The method of claim 28, wherein a binding of a variant IRF6 nucleic acid to said immobilized targets on said solid support is indicative of the presence, absence, or prevalence of an IRF6 dysfunction or dysregulation.
30. The method of claim 1, wherein said detecting comprising contacting said sample with a solid support under conditions allowing interaction of an IRF6 nucleic acid comprising the nucleotide sequence of SEQ ID NO:1 and comprising at least one polymorphism as shown in Table 1.
31. The method of claim 1, wherein said detecting comprising contacting said sample with a solid support under conditions allowing interaction of a vector, wherein said vector comprises an isolated nucleic acid comprising SEQ ID NO:1 and comprising at least one polymorphism as shown in Table 1, operatively linked to a regulatory sequence to said immobilized targets on said solid support.
32. The method of claim 1, wherein said detecting comprising contacting said sample with a solid support under conditions allowing interaction of a recombinant host cell, present in said sample.
33. The method of claim 1, wherein said detecting comprising contacting said sample with a solid support under conditions allowing interaction of an isolated polypeptide encoded by an IRF6 nucleic acid present in said sample, said polypeptide comprising:
(a) the amino acid sequence as depicted in SEQ ID NO:2 which comprises at least one polymorphism as shown in Table 1;
(b) the amino acid sequence as depicted in SEQ ID NO:2 which comprises at least two polymorphisms as shown in Table 1;
(c) an amino acid sequence which is greater than about 90% identical to an amino sequence of SEQ ID NO:2 and comprising at least one polymorphism as shown in Table 1; and
(d) an amino acid sequence which is greater than about 95% identical to an amino acid sequence of SEQ ID NO:2 and comprising at least one polymorphism as shown in Table 1.
34. The method of claim 1, wherein said detecting comprising contacting said sample with a solid support under conditions allowing interaction of an antibody, or a fragment thereof, that specifically binds to the polypeptide encoded by an IRF6 nucleic acid comprising:
(a) the amino acid sequence as depicted in SEQ ID NO:2 which comprises at least one polymorphism as shown in Table 1;
(b) the amino acid sequence as depicted in SEQ ID NO:2 which comprises at least two polymorphisms as shown in Table 1;
(c) an amino acid sequence which is greater than about 90% identical to an amino sequence of SEQ ID NO:2 and comprising at least one polymorphism as shown in Table 1; and
(d) an amino acid sequence which is greater than about 95% identical to an amino acid sequence of SEQ ID NO:2 and comprising at least one polymorphism as shown in Table 1.
35. The method of claim 1, wherein said detecting comprising contacting said sample with a solid support under conditions allowing interaction of a nucleic acid molecule comprising exons 2-9 of IRF6 having a nucleotide sequence comprising SEQ ID NO:1 and comprising at least one polymorphism associated with Van der Woude syndrome, Poplitieal syndrome, and isolated cleft lip andor palate in any one of said exons.
36. The method of claim 1, wherein said detecting comprising contacting said sample with a solid support under conditions allowing interaction of an IRF6 nucleic acid having a nucleotide sequence depicted in SEQ ID NO:1, wherein said nucleotide sequence encodes a polypeptide sequence comprising amino acids 13-113 of SEQ ID NO:2, wherein said polypeptide comprises at least one polymorphism as shown in Table 1.
37. The method of claim 1, wherein said detecting comprising contacting said sample with a solid support under conditions allowing interaction of an IRF6 nucleic acid having a nucleotide sequence depicted in SEQ ID NO:1, wherein said nucleotide sequence encodes a polypeptide sequence comprising amino acids 226-394 of SEQ ID NO:2, wherein said polypeptide comprises at least one polymorphism as shown in Table 1.
38. A diagnostic composition for detecting the predisposition to an IRF6 dysfunction or dysregulation, the composition comprising at a nucleic acid comprising SEQ ID NO:1 and comprising at least one polymorphism, and a carrier.
39. The diagnostic composition of claim 38 comprising a nucleic acid sequence comprising SEQ ID NO:1 and comprising at least one polymorphism as shown in Table 1, and a carrier.
40. A transgenic non-human animal comprising
(a) a nucleic acid molecule comprising an IRF6 nucleic acid having the nucleotide sequence having SEQ ID NO:1 and comprising at least one polymorphism as shown in Table 1;
(b) a nucleic acid molecule comprising an IRF6 gene, the nucleotide sequence of SEQ ID NO:1 encoding a polypeptide comprising an amino acid sequence as depicted in SEQ ID NO:2 and comprises at least one polymorphism associated as shown in Table 1.
41. An isolated nucleic acid molecule comprising:
(a) a nucleic acid molecule comprising an IRF6 nucleic acid having the nucleotide sequence of SEQ ID NO:1 and comprising at least one polymorphism as shown in Table 1;
(b) a nucleic acid molecule comprising an IRF6 nucleic acid having the nucleotide sequence of SEQ ID NO:1 and comprising at least two polymorphism as shown in Table 1; and
(c) a nucleic acid molecule comprising an IRF6 gene, the nucleotide sequence of SEQ ID NO:1 encoding a polypeptide comprising an amino acid sequence as depicted in SEQ ID NO:2 and comprises at least one polymorphism associated as shown in Table 1.
42. A vector comprising an isolated nucleic acid molecule comprising SEQ ID NO:1 and comprising at least one polymorphism shown in Table 1, operatively linked to a regulatory sequence.
43. A recombinant host cell comprising the vector of claim 42.
44. An isolated nucleic molecule comprising an IRF6 nucleic acid having a nucleotide sequence depicted in SEQ ID NO:1, wherein said nucleotide sequence encodes a polypeptide sequence comprising amino acids 13-113 of SEQ ID NO:2, wherein said polypeptide comprises at least one polymorphism as shown in Table 1.
45. An isolated nucleic molecule comprising an IRF6 nucleic acid having a nucleotide sequence depicted in SEQ ID NO:1, wherein said nucleotide sequence encodes a polypeptide sequence comprising amino acids 226-394 of SEQ ID NO:2, wherein said polypeptide comprises at least one polymorphism as shown in Table 1.
46. The isolated nucleic acid molecule of claim 44, said polymorphism is a change from arginine to a cysteine at amino acid residue 84 (Arg84Cys).
47. The isolated nucleic acid molecule of claim 46, said polymorphism is a change from a cytosine to a thymine at nucleotide position 250 (C250T).
48. The isolated nucleic acid molecule of claim 44 said polymorphism is a change from an arginine to a histidine at amino acid residue 84 (Arg84His).
49. The isolated nucleic acid molecule of claim 48, said polymorphism is a change from a guanine to an adenine at nucleotide position 251 (G251A).
50. An isolated nucleic acid molecule comprising: exons 2-9 of an IRF6 nucleic acid comprising SEQ ID NO:1, wherein at least one has at least one polymorphism as shown in Table 1.
51. An isolated polypeptide encoded by an IRF6 nucleic acid comprising:
(a) the amino acid sequence as depicted in SEQ ID NO:2 which comprises at least one polymorphism as shown in Table 1;
(b) the amino acid sequence as depicted in SEQ ID NO:2 which comprises at least two polymorphisms as shown in Table 1;
(c) an amino acid sequence which is greater than about 90% identical to an amino sequence of SEQ ID NO:2 which comprises at least one polymorphism as shown in Table 1; and
(d) an amino acid sequence which is greater than about 95% identical to an amino acid sequence of SEQ ID NO:2 which comprises at least one polymorphism as shown in Table 1.
52. A fusion protein comprising the polypeptide of claim 51.
53. An antibody, or an antibody fragment thereof, that specifically binds to the polypeptide of claim 51.
54. An antibody, or antibody fragment thereof that specifically binds to the polypeptide of claim 44.
55. An antibody or antibody fragment thereof that specifically binds to the polypeptide of claim 45.
56. An isolated nucleic acid comprising at least 20-50 contiguous nucleotides, wherein said nucleic acid comprises the nucleotide sequence of SEQ ID NO:1 and comprises at least one polymorphism as shown in Table 1.
57. The nucleic acid molecule of claim 41, wherein the nucleic acid is DNA.
58. The nucleic acid molecule of claim 41, wherein the nucleic acid is RNA.
59. The nucleic acid of claim 56, wherein the nucleic acid is DNA.
60. The nucleic acid of claim 56, wherein the nucleic acid is RNA.
61. An isolated polypeptide encoded by an IRF6 nucleic acid comprising: the amino acid sequence as depicted in SEQ ID NO:2, wherein said polypeptide sequence comprises a polymorphism of valine to isoleucine at amino acid residue 274 (V274Ile).
62. A pharmaceutical composition comprising the polymorphic nucleic acid of claim 41 and a physiologically acceptable carrier.
63. A pharmaceutical composition comprising the vector of claim 42, and a physiologically acceptable carrier.
64. A pharmaceutical composition comprising the polypeptide of claim 51, and a physiologically acceptable carrier.
65. A pharmaceutical composition comprising the fusion protein of claim 52, and a physiologically acceptable carrier.
66. A pharmaceutical composition comprising the antibody of claim 53 and a physiologically acceptable carrier.