Detection of mutations in a CD40 ligand gene

Details Detection of mutations in a CD40 ligand gene Detection of mutations in a CD40 ligand gene

1994-01-21

1996-10-15

Parr, Margaret

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 71, 435 911, 536 231, 536 235, 536 243, 536 2431, 935 77, C12F 1934, C12Q 168, G01N 3350

Patent

active

055653219

ABSTRACT:
There is disclosed a method of detecting a mutation in a CD40 ligand gene, comprising isolating nucleic acid from an individual, selectively amplifying nucleic acid derived from the CD40 ligand gene, and analyzing the amplified nucleic acid to determine if there is a mutation (or mutations) in the CD40 ligand gene. The ability of a CD40 ligand protein expressed from the gene may be determined. Methods of treating a syndrome that results in elevated levels of serum IgM and diminished levels of all other isotypes of immunoglobulins are also disclosed. Also disclosed are non-human animals that lack functional CD40 ligand as a result of gene targeting technology.

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