Mary Ann Conley

US Patent:

51067285, Apr 21, 1992

Filed:

Mar 14, 1990

Appl. No.:

7/494942

Inventors:

Mary E. Conley - Philadelphia PA
Robert L. Nussbaum - Ardmore PA
Jennifer M. Puck - Ardmore PA

Assignee:

Childrens Hospital of Philadelphia - Philadelphia PA
Trustees of the University of Pennsylvania - Philadelphia PA

International Classification:

C12Q 168
A01N 6300

US Classification:

435 6

Abstract:

There is provide by the invention a method of diagnosing a human female suspected of being an symptomatic carrier of X-linked agammaglobulinemia (XLA). The method comprises sampling B cell lymphocytes of said female; and determining whether at least 95% of said B cell lymphocytes exhibit inactivation of the same chromosome; whereby said X chromosome inactivation is diagnostic of XLA. The invention further provides a method of screening a human female suspected of being an asymptomatic carrier of X-linked severe combined immunodeficiency (XSCID). The method comprises sampling the B or T cell lymphocytes of said female; determining whether at least 85% of said lymphocytes exhibit inactivation of the same chromosome; whereby said X chromosome inactivation is associated with XSCID.