Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1990-03-14
1992-04-21
Wax, Robert A.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
436811, C12Q 168, A01N 6300
Patent
active
051067285
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.
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Conley Mary E.
Nussbaum Robert L.
Puck Jennifer M.
Chambers S.
Children's Hospital of Philadelphia
Trustees of the University of Pennsylvania
Wax Robert A.
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