[PAGID] CGD new mutation?

[Prof. Dr. Antonio Condino Neto]

The problem is to collect fetal blood at that age
-- 
Antonio Condino-Neto
Professor, Department of Immunology
Institute of Biomedical Sciences, University of São Paulo
1730 Lineu Prestes Avenue, São Paulo - SP. ZIP 05508-000. Brazil
Tel (55) (11) 3091-7387 / Fax (55) (11) 3091-7224



Citando Jack Bleesing <Jack.Bleesing at cchmc.org>:


> Wouldn't a DHR assay be informative as well?

>

> Jack Bleesing

>

> ---------------------------------------------------------------------------

> Jack J.H. Bleesing, M.D., Ph.D.

> Associate Professor of Pediatrics

> Cincinnati Children's Hospital Medical Center

> Division of Bone Marrow Transplantation and Immune Deficiency

> 3333 Burnet Avenue, MLC 7015

> Cincinnati, OH 45229

> 513-636-4266 (phone)

> 513-636-3549 (fax)

>

>

>>>> "Torgerson, Troy" <troy.torgerson at seattlechildrens.org> 9/7/2009

> 2:02 PM >>>

> Nacho,

>

>

>

> The +4 position downstream of most exons (considered the 5' splice site

> since it is at the 5' end of the intron) is quite highly conserved and

> is usually an A.

>

> See the figure at this link which is from a 2004 Nature Genetics review

> showing in a nice graphical format what the typical 5' splice site

> consensus is:

>

>

>

> http://www.nature.com/nrg/journal/v5/n10/fig_tab/nrg1451_F1.html

>

>

>

> Nature Reviews Genetics 5, 773-782 (October 2004)

>

>

>

> Unless you can quickly sequence the mRNA, I think you have to assume

> that this mutation in the 5' splice site causes a splicing defect and

> causes disease.

>

>

>

> Best,

>

> TT

>

>

>

>

>

> Troy R. Torgerson MD PhD

>

> Assistant Professor, Pediatric Immunology/Rheumatology

>

> Co-Director Immunodeficiency Molecular Diagnostics Laboratory

>

> Center for Immunity and Immunotherapies (CIIT)

>

> University of Washington and Seattle Children's Research Institute

>

> 1900 9th Avenue

>

> Seattle, WA  98101-1304

>

>

>

> Tel (206) 987-7450

>

> Fax (206) 987-7310

>

>

>

> From: pagid-bounces at list.clinimmsoc.org

> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Nacho

> Gonzalez

> Sent: Monday, September 07, 2009 1:56 AM

> To: pagid at list.clinimmsoc.org

> Subject: [PAGID] CGD new mutation?

>

>

>

> Good morning, we have found a mutation in CYBB g.IVS6(+4) and it

> doesńt appear in the databases

>

> Does anyone know if it has been already described?

>

>

>

> Many thanks

>

>

>

> Luis Ignacio Gonzalez Granado. Inmunoodeficiencies. Hospital 12

> octubre.

>

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