Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1993-03-12
1996-05-21
Jones, W. Gary
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
4351723, 4353201, 435810, 436501, 536 221, 536 231, 536 241, 536 243, 536 2431, 536 2432, 536 2433, 935 9, 935 13, 935 77, 935 78, C12Q 168, C07H 2104
Patent
active
055188800
ABSTRACT:
The present invention provides a method for diagnosing XSCID in a male subject or determining whether a female subject is a carrier of XSCID which comprises determining whether the male or female subject possesses a mutated IL-2R.gamma. gene, the presence of the mutated IL-2R.gamma. gene being indicative that the male subject has XSCID or the female subject is a carrier of XSCID. The present invention also provides a method for diagnosing XSCID in a subject which comprises determining whether the subject possesses a truncated IL-2R.gamma. protein, the presence of the truncated IL-2R.gamma. protein being indicative of XSCID. The present invention further provides kits for diagnosing XSCID in a male subject or determining whether a female subject is a carrier of XSCID. The present invention still further provides methods for treating XSCID and a method for monitoring therapy. Lastly, the present invention provides a promoter which regulates expression of IL-2R.gamma., a vector comprising a DNA molecule operably linked to the promoter, a prokaryotic or eukaryotic cell host stably transformed or transfected with the vector, and a transgenic animal comprising a gene regulated by the promoter or a transgenic animal comprising a mutant IL-2R.gamma. gene.
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Leonard Warren J.
McBride O. Wesley
Noguchi Masayuki
Jones W. Gary
Marschel Ardin H.
The United States of America as represented by the Secretary of
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