驗認創新的p110δ 和Btk 基因的突變/多型性及分析其衍生蛋白質特性來闡明他們在原發性B細胞免疫缺陷的致病
Date Issued
2004
Date
2004
Author(s)
周獻堂
DOI
922314B002211
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/NSC92-2314-B-002-211), we have
established the methods to screen the patients
with primary B-cell defect by genomic DNAPCR
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 RTPCR
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 three
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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