Methods for diagnosing cystic fibrosis
First Claim
Patent Images
1. A method of determining the cystic fibrosis status of a human comprising:
- (a) determining the presence or absence of the 1484G->
T mutation in both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene in a nucleic acid sample obtained from the human, and(b) identifying the human(i) as having cystic fibrosis or being predisposed to cystic fibrosis when the human is homozygous for the 1484G->
T mutation in the CFTR gene, or(ii) as being a cystic fibrosis carrier when the human is heterozygous for the 1484G->
T mutation in the CFTR gene, or(iii) as having no predisposition or carrier status caused by the 1484G->
T mutation when the 1484G->
T mutation is absent from both alleles of the CFTR gene.
0 Assignments
0 Petitions
Accused Products
Abstract
The present invention provides novel mutations of the CFTR gene related to cystic fibrosis or to conditions associated with cystic fibrosis. Also provided are probes for detecting the mutant sequences. Methods of identifying if an individual has a genotype containing one or more mutations in the CFTR gene are further provided.
22 Citations
13 Claims
-
1. A method of determining the cystic fibrosis status of a human comprising:
-
(a) determining the presence or absence of the 1484G->
T mutation in both alleles of the cystic fibrosis transmembrane regulatory (CFTR) gene in a nucleic acid sample obtained from the human, and(b) identifying the human (i) as having cystic fibrosis or being predisposed to cystic fibrosis when the human is homozygous for the 1484G->
T mutation in the CFTR gene, or(ii) as being a cystic fibrosis carrier when the human is heterozygous for the 1484G->
T mutation in the CFTR gene, or(iii) as having no predisposition or carrier status caused by the 1484G->
T mutation when the 1484G->
T mutation is absent from both alleles of the CFTR gene. - View Dependent Claims (4, 5, 6, 7, 8, 9, 10, 11, 12, 13)
-
-
2. A method of determining if a human is predisposed to cystic fibrosis comprising determining if nucleic acid from the human is homozygous for the 1484 G->
- T mutation in the cystic fibrosis transmembrane regulatory (CFTR) gene and identifying said human as predisposed to cystic fibrosis when the human is homozygous.
-
3. A method of identifying a human as having an increased likelihood of having an offspring afflicted with cystic fibrosis, comprising determining if nucleic acid from the human has the 1484 G->
- T mutation in one or both alleles of the CFTR gene and identifying said human as having an increased likelihood of having an offspring afflicted with cystic fibrosis when said 1484 G->
T mutation is present in at least one allele.
- T mutation in one or both alleles of the CFTR gene and identifying said human as having an increased likelihood of having an offspring afflicted with cystic fibrosis when said 1484 G->
Specification
-
- Resources
Litigation Campaign Assessment
Thank you for your request. You will receive a custom alert email when the Litigation Campaign Assessment is available.
×
-
Current AssigneeQuest Diagnostics Investments Incorporated (Quest Diagnostics Incorporated)
-
Original AssigneeQuest Diagnostics Investments Incorporated (Quest Diagnostics Incorporated)
-
InventorsQuan, Franklin, Buller, Arlene M., Peng, Mei, McGinniss, Matthew J., Sun, Weimin
-
Primary Examiner(s)GOLDBERG, JEANINE ANNE
-
Application NumberUS12/015,467Time in Patent Office986 DaysField of SearchNoneUS Class Current435/6.11CPC Class CodesC12Q 1/6883 for diseases caused by alte...C12Q 2600/156 Polymorphic or mutational m...Y10T 436/143333 Saccharide [e.g., DNA, etc.]
