DC 欄位 | 值 | 語言 |
dc.contributor.author | 周獻堂 | zh_TW |
dc.creator | 周獻堂 | zh_TW |
dc.date | 2004 | zh_TW |
dc.date.accessioned | 2006-07-26T03:08:11Z | - |
dc.date.accessioned | 2018-07-11T17:50:13Z | - |
dc.date.available | 2006-07-26T03:08:11Z | - |
dc.date.available | 2018-07-11T17:50:13Z | - |
dc.date.issued | 2004 | - |
dc.identifier | 922314B002211 | zh_TW |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/22896 | - |
dc.description.abstract | 此計劃的目的為尋找在未知原因的原發性B
細胞免疫缺陷病童的致病機轉是否為p110δ
基因突變所造成。但因根據外國資料, 原發
性B 細胞免疫缺陷的病童大部(約85%)為
Btk 基因突變所引起, 所以應須先行檢查Btk
基因; 不過, 因為目前台灣尚未有方便且可
靠的分子生物學方法來在原發B 細胞免疫缺
陷病童中確定診斷為XLA 疾病﹐也無XLA
病童的Btk 基因突變型本土資料。在國科會
補助下(NSC91-2314-13-002-189/NSC92-
2314-B-002-211) ﹐ 我們已建立用genomic
DNA-PCR and direct sequencing 的方法來從
患有原發B 細胞免疫缺陷疾病的病童中篩檢
及確定其Btk 基因突變位置及多型式從而來
證實診斷為XLA 疾病。目前, 從所篩檢病童
中, 已成功確立4 個病童其Btk 基因突變位
置及型式以及其家族的基因篩檢。 同時, 亦
已建立用RT-PCR and direct sequencing 的方
法來篩檢在Btk 基因檢查確定無突變但仍不
知原因的原發B 細胞免疫缺陷病童的PI3
kinase p110δ基因是否有多型性及突變以證
實p110δ基因的突變可能是某些未知原因的
原發性B 細胞免疫缺陷的致病機轉。目前,
在3 位病人發現其p110δ基因有一整段
Exon14 刪除。這段被刪除的基因位於PI3
kinase 的accessory domain, 它在PI3 和 PI4-
kinase 是conserved 的,其功能為受脢質的呈
現。 | zh_TW |
dc.description.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. | en |
dc.format | application/pdf | zh_TW |
dc.format.extent | 217212 bytes | - |
dc.format.mimetype | application/pdf | - |
dc.language | zh-TW | zh_TW |
dc.language.iso | zh_TW | - |
dc.publisher | 臺北市:國立臺灣大學醫學院小兒科 | zh_TW |
dc.rights | 國立臺灣大學醫學院小兒科 | zh_TW |
dc.title | 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 | zh_TW |
dc.type | report | en |
dc.identifier.uri.fulltext | http://ntur.lib.ntu.edu.tw/bitstream/246246/22896/1/922314B002211.pdf | - |
dc.coverage | 計畫年度:92;起迄日期:2003-08-01/2004-07-31 | zh_TW |
item.languageiso639-1 | zh_TW | - |
item.fulltext | with fulltext | - |
item.grantfulltext | open | - |
item.openairetype | report | - |
item.openairecristype | http://purl.org/coar/resource_type/c_93fc | - |
item.cerifentitytype | Publications | - |
顯示於: | 醫學系
|