闡明創新的 p110delta 和Btk 基因在原發性B細胞免疫缺陷的致病機轉角色
Date Issued
2003
Date
2003
Author(s)
周獻堂
DOI
912314B002189
Abstract
This study is to explore the possibility that
some patients with defects in B-cell
immunodeficiency of unknown etiology might
have mutations in PI3 kinase p110δ. Although,
according to the foreign data, the majority of
primary B-cell immunodeficiency (about 85%)
is due to Btk mutation. We need to exclude the
possibility of Btk gene mutation before we
check the p110δgene. However, at present,
there is still no convenient and reliable
molecular method for definite diagnosis of
XLA in patients with primary B-cell
immunodeficiency in Taiwan. There is no Btk
gene mutation and polymorphism data for
Taiwanese XLA patients, either. Under this
grant support of NSC (NSC91-2314-13-002-
189), we have established the methods to screen
the patients with primary B-cell defect by
genomic DNA-PCR and direct sequencing
analysis to identify the Btk gene mutations and
then establish the diagnosis of the XLA patients.
Until now, we have already successfully
identified 4 patients of primary B-cell
immunodeficiency with Btk gene mutation and
screened their family members. We also have
established the RT-PCR and direct sequencing
methods to screen the potential p110 δ gene
polymorphism and mutation in the remaining
primary B-cell immunodeficiency patients
without Btk mutations. Until now, we have
identified one patient with 2 different sizes of
his 3rd PCR amplified fragment. After cloning
and comparison with human p110δsequence,
the nucleotides 2,007-2,150 were completely
missed in the shorter band. These missed
nucleotides coded for the entire Exon 14(inreading
frame deletion). The missed Exon 14 is
located in PI3K accessory domain which is
conserved in all PI3 and PI4-kinase with the
function for substrate presentation.
Publisher
臺北市：國立臺灣大學醫學院小兒科
Type
report
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