عنوان به زبان ديگر :
DNA Banking of Primary Immunodeficiency Disorders in Iran
پديد آورندگان :
Isaian Anna نويسنده , Moin Mostafa نويسنده , Pourpak Zahra نويسنده , Rezaei Nima نويسنده , Aghamohammadi Asghar نويسنده , MOVAHEDI MASOUD نويسنده , GHARAGOZLOU MOHAMMAD نويسنده , GHAFFARI JAVAD نويسنده , ZANDIEH FARIBORZ نويسنده , MANSOURI MAHBOUBEH نويسنده , FARHOUDI ABOLHASSAN نويسنده
چكيده لاتين :
Primary immunodeficiency disorders are a
heterogeneous group of genetic disorders, with different
modes of inheritance, consisting of more than 100
different types. We constructed the DNA banking of
primary immunodeficiency disorders for the first time in
Iran. The DNA of 31 immunodeficient patients and their
families (total of 92 samples) were collected, as the first
step for construction of DNA banking. DNA was
isolated from whole blood by salting out method. Among
our patients, Common variable immunodeficiency was
the most common disorder, followed by X-linked
agammaglobulinemia, Ataxia-telangiectasia, Chronic
granulomatous disease, Severe combined
immunodeficiency, Hyper IgM syndromes, and
Leukocyte adhesion defects. DNA banking is a useful
method for further detection of mutation in
immunodeficient patients and prenatal diagnosis for
presence or absence of the disorder in the fetus which
can be confirmed by molecular genetics testing.