| US 7,393,642 B2 | ||
| Methods and primers for diagnosing idiopathic congenital central hypoventilation syndrome | ||
| Debra E. Weese-Mayer, Chicago, Ill. (US); Elizabeth M. Berry-Kravis, Des Plaines, Ill. (US); and Lili Zhou, Darien, Ill. (US) | ||
| Assigned to Chicago Community Foundation, Chicago, Ill. (US) | ||
| Filed on Jul. 15, 2004, as Appl. No. 10/891,585. | ||
| Claims priority of provisional application 60/488105, filed on Jul. 17, 2003. | ||
| Prior Publication US 2005/0042657 A1, Feb. 24, 2005 | ||
| Int. Cl. C07H 21/04 (2006.01); C12Q 1/68 (2006.01) | ||
| U.S. Cl. 435—6 [435/91.1; 435/91.2] | 11 Claims |
| 1. A method of diagnosing or confirming idiopathic congenital central hypoventilation syndrome (CCHS) in a human subject,
the method comprising
(a) obtaining a nucleic acid sample from the subject;
(b) amplifying the nucleic acid that includes the PHOX2b gene for the polyalanine repeat using a forward primer of SEO ID
NO: 4 and a reverse primer of SEQ ID NO: 5;
(c) quantifying the length of the polyalanine repeat region of the PHOX2b gene; and
(d) diagnosing or confirming CCHS based on the length of the polyalanine repeat region of PHOX2b.
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