Test for Huntington's disease

• US 4,666,828 A
• Filed: 08/15/1984
• Issued: 05/19/1987
• Est. Priority Date: 08/15/1984
• Status: Expired due to Term

• Current Assignee: The General Hospital Corporation (Mass General Brigham, Inc.)
• Original Assignee: The General Hospital Corporation (Mass General Brigham, Inc.)
• Inventors: Gusella, James F.
• Primary Examiner(s): NOT, DEFINED
• Assistant Examiner(s): Jay, Jeremy
• Application Number:
  US06/640,808
• Time in Patent Office: 1,007 Days
• Field of Search: 435/6, 435/91, 435/78, 435/172.3, 435/803, 436/63, 436/94, 436/501, 436/504, 436/811, 935/10, 935/19, 935/9, 424/1.1, 204/182.8
• US Class Current: 435/6.16
• CPC Class Codes: C12Q 1/683 involving restriction enzymes, e.g. restriction fragment length polymorphism [RFLP]
• CPC Class Codes: C12Q 1/6883 for diseases caused by alterations of genetic material
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers
• CPC Class Codes: C12Q 2600/172 Haplotypes
• CPC Class Codes: Y10S 436/811 Test for named disease, body condition or organ function

Abstract

A method for detecting the presence of the gene for Huntington'"'"'s disease in a subject which comprises analyzing the human chromosome 4 of the subject for a DNA polymorphism, preferably a restriction fragment length polymorphism (RFLP), linked to Huntington'"'"'s Disease.

Claims

1. A method for detecting the presence in a subject of the gene for Huntington'"'"'s Disease which comprises:

analyzing the human chromosome 4 of said subject for a DNA polymorphism linked to Huntington'"'"'s Disease.

2. The method of claim 1 wherein said polymorphism is a restriction fragment length polymorphism (RFLP).

3. The method of claim 2 wherein said step of claim 2 wherein said step of analyzing is carried out by:

(a) digesting DNA from said subject with a restriction endonuclease enzyme;

(b) separating fragments obtained from said digestion;

(c) detecting said RFLP with a hybridization probe containing sequence information capable of hybridizing to and identifying said RFLP, thereby generating a restriction pattern; and

(d) correlating the presence or absence of said RFLP in said digest with the respective presence or absence of the Huntington'"'"'s Disease gene.

4. The method of claim 3 wherein said probe is detectably labelled.

5. The method of claim 3 wherein at least two different digestions with two different restriction endonuclease enzymes are carried out.

6. The method of claim 3 wherein several probes are utilized to detect several RFLP'"'"'s.

7. The method of claim 3 wherein the restriction pattern for said subject is compared with the corresponding restriction pattern for family members showing segregation between the Huntington'"'"'s Disease gene and said RFLP.

8. The method of claim 7 wherein the restriction pattern for said subject is compared to the corresponding restriction pattern for a parent of said subject which is unaffected by Huntington'"'"'s Disease, a parent of said subject which is affected by Huntington'"'"'s Disease and sibling of said subject which is affected by Huntington'"'"'s Disease.

9. The method of claim 3 wherein said probe is radiolabelled G8.

10. The method of claim 3 wherein said separation is by agarose gel electrophoresis.