Structural organization of the gene for CD40 ligand: molecular analysis for diagnosis of X-linked hyper-IgM syndrome

Shimadzu, Mitsunobu; Nunoi, Hiroyuki; Tazaki, Hiroshi; Ninomiya, Rukako; Iwata, Mayumi; Kanegasaka, Shiro; Matsuda, Ichiro

doi:10.1016/0167-4781(94)00179-7

Cited by 34 publications

(19 citation statements)

References 28 publications

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“…SSCP has been used to identify point mutations in a number of genes (23-25) and PCR-SSCP recently has been used to iden- tify mutations in CD40 ligand (28). The present experiments use SSCP to screen patients with SLE for a defect in the fourth exon of FasL and a heterozygous mutation was found in 1 of 75 patients, but in none of the 52 normal control patients.…”

Section: Discussionmentioning

confidence: 99%

Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease.

Wilson²,

He³

et al. 1996

J. Clin. Invest.

434

210

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Section: Discussionmentioning

confidence: 99%

Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease.

Wilson²,

He³

et al. 1996

J. Clin. Invest.

434

210

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“…Seven fixed differences between human and chimpanzees are underlined and labelled 'X in chimps'. Discrepancies with previously published sequence (14) are underlined and labelled 'X found'. Three single nucleotide polymorphisms are underlined and labelled 'X/Y polymorphism'.…”

Section: Figurementioning

confidence: 99%

CD40L association with protection from severe malaria

et al. 2002

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“…This approach has the advantage that it can be used to provide carrier detection when the proband is no longer living or in families with sporadic X-linked hyper IgM syndrome when the origin of the mutation is not known. A single mutation in CD40 ligand found by SSCP screening has been reported (24); however, it is not clear what proportion of mutations in CD 40 ligand can be detected by SSCP screening.…”

Section: Introductionmentioning

confidence: 99%

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

Lin¹,

Rohrer²,

Allen³

et al. 1996

J. Clin. Invest.

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Mutations in the gene for CD40 ligand are responsible for the X-linked form of hyper IgM syndrome. However, no clinical or laboratory findings that reliably distinguish X-linked disease from other forms of hyper IgM syndrome have been reported, nor are there tests available that can be used to confidently provide carrier detection. To identify efficiently mutations in the gene for CD40 ligand, eight pairs of PCR primers that could be used to screen genomic DNA by single strand conformation polymorphism (SSCP) were designed. 11 different mutations were found in DNA from all 13 patients whose activated T cells failed to bind a recombinant CD40 construct. The exact nature of four of these mutations, a deletion and three splice defects, could not be determined by cDNA sequencing. In addition, SSCP analysis permitted rapid carrier detection in two families in whom the source of the mutation was most likely a male with gonadal chimerism who passed the disorder on to some but not all of his daughters. These studies document the utility of SSCP analysis for both mutation detection and carrier detection in X-linked hyper IgM syndrome. ( J. Clin. Invest. 1996. 97:196-201. )

show abstract

Structural organization of the gene for CD40 ligand: molecular analysis for diagnosis of X-linked hyper-IgM syndrome

Cited by 34 publications

References 28 publications

Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease.

Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease.

CD40L association with protection from severe malaria

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

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