Isolation of the defective gene in X linked agammaglobulinaemia.
نویسنده
چکیده
منابع مشابه
X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report.
AIM Primary immunodeficiencies (PID) are becoming a recognized public health problem worldwide. The most important subgroup of these disorders are the antibody deficiencies. X-linked agammaglobulinaemia was the first described entity of this group and is characterised by early onset of recurrent bacterial infections, profound deficiency of all immunoglobulin isotypes and markedly reduced number...
متن کاملA new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemia.
The gene responsible for X linked agammaglobulinaemia (XLA) lies in Xq22 and has recently been identified as atk. DXS101 is a polymorphic locus which is closely linked to the disease locus. In this report we describe the identification, by pulsed field gel electrophoresis, of a new polymorphism at the DXS101 locus with a predicted heterozygosity of 4.9%. Despite this low value, we show how this...
متن کاملX linked agammaglobulinaemia with a 'leaky' phenotype.
Typical X linked agammaglobulinaemia (XLA) is characterised by absence of immunoglobulin production and lack of mature B cells. The gene responsible for XLA has recently been identified, and codes for a B cell tyrosine kinase, BTK. A family affected by a B cell immunodeficiency, which is less severe than classical XLA, is described but they had a pedigree suggestive of X linked inheritance. Dem...
متن کاملMake up TIB
Antibody deficiency diseases are common collectively. The clinical presentation of these disorders is extremely variable and they affect many different organ systems; hence these patients present to a variety of medical and surgical specialists. Patients suffering from antibody deficiency are susceptible to significant, recurrent infections and if diagnosis and implementation of therapy is dela...
متن کاملPrenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene
Objective(s):To determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. Materials and Methods: After collection of 100 Chorionic Villi samples, the DNAs were extracted and baby gender was determined. Meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. Resul...
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عنوان ژورنال:
- Journal of medical genetics
دوره 30 6 شماره
صفحات -
تاریخ انتشار 1993