Methods for Identification of Merle Gene

• US 20080227102A1
• Filed: 08/16/2006
• Published: 09/18/2008
• Est. Priority Date: 08/16/2005
• Status: Active Grant

• Current Assignee: Christine Rees, Jacquelyn Wahl, Keith E. Murphy, Leigh Anne Clark
• Original Assignee: Merlogen LLC
• Inventors: Rees, Christine, Wahl, Jacquelyn, Clark, Leigh Anne, Murphy, Keith E.
• Granted Patent: US 7,807,370 B2
• Time in Patent Office: Days
• US Class Current: 435/6
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 2600/124 Animal traits, i.e. production traits, including athletic performance or the like
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers
• CPC Class Codes: C12Q 2600/16 Primer sets for multiplex assays

Abstract

Animals with mutations in SILV present with the merle coat color pattern phenotype. Methods for the identification of animals that harbor a mutation in the SILV gene are described. Mutations in the SILV gene can be identified from any biological sample such as a cell or tissue that contains genomic DNA. A microsatellite marker identified using linkage disequilibrium mapping that segregates with merle is also described.

Claims

1. A method for identifying individuals having mutations in the SILV gene comprising:

a) obtaining a biological sample from a dog or human; and

b) analyzing the biological sample for mutations within the SILV gene or human equivalent.

2. The method of claim 1 wherein the organism has a merle allele.

3. The method of claim 2 wherein the merle allele is SEQ ID NO:

25 or a sequence hybridizing thereto under stringent conditions.

4. The method of claim 1 wherein the dog has a cryptic merle allele.

5. The method of claim 4 wherein the cryptic merle allele is SEQ ID NO:

34, 35 or 36 or a sequence hybridizing thereto under stringent conditions.

6. The method of claim 1 wherein the biological sample is cell or tissue containing genomic DNA obtained from a dog.

7. The method of claim 1 wherein the biological sample is analyzed by performing PCR using genomic DNA templates and polyacrylamide gel electrophoresis.

8. The method of claim 1 for screening a human for defects in the analogous human gene.

9. The method of claim 8 wherein the human has or is at risk of producing children with auditory or visual defects.

10. A method to identify a gene causing auditory or visual defects in a human comprising obtaining samples from WS 2 affected patients and normal individuals, and sequencing the DNA to identify any nonsense, missense, insertion, deletion, or splicing mutations in the samples in a region analogous to the SILV gene which are present in the WS 2 affected patients but not the normal individuals.

11. SEQ ID NO:

25 or a sequence hybridizing thereto under stringent conditions.

12. SEQ ID NO:

34, 35 or 36 or a sequence hybridizing thereto under stringent conditions.

13. A kit for screening a dog or human for the presence of the merle gene or analogous defects in a human gene comprising SEQ ID NO:

25 or a sequence hybridizing thereto under stringent conditions and reagents for determining the presence of the merle gene or analogous human gene in a sample obtained from the human or dog.

14. A kit for screening a dog or human for the presence of the merle gene or analogous defects in a human gene comprising SEQ ID NO:

25 or a sequence hybridizing thereto under stringent conditions and reagents for determining the presence of the merle gene or analogous human gene in a sample obtained from the dog or human.

15. A kit for screening a dog or human for the presence of the cryptic merle gene or analogous defects in a human gene comprising SEQ ID NO:

34, 35 or 36 or a sequence hybridizing thereto under stringent conditions and reagents for determining the presence of the cryptic merle gene in a sample obtained from the dog or human.