English  |  正體中文  |  简体中文  |  Items with full text/Total items : 90453/105671 (86%)
Visitors : 15358177      Online Users : 340
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
Scope Tips:
  • please add "double quotation mark" for query phrases to get precise results
  • please goto advance search for comprehansive author search
  • Adv. Search
    HomeLoginUploadHelpAboutAdminister Goto mobile version
    ASIA unversity > 醫學暨健康學院 > 期刊論文 >  Item 310904400/6756


    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/6756


    Title: Genetic analysis of chromosome 22q11.2 markers in congenital heart disease
    Authors: Shi YR;Hsieh KS;Wu,Jer-Yuarn;Lee,Chun-Cheng;YU MT;Jeng-Sheng Chang;Fuu-Jen Tsai;Chang-Hai Tsai
    Date: 2003-05
    Issue Date: 2009-12-23 14:22:05 (UTC+8)
    Publisher: Asia University
    Abstract: Congenital heart disease (CHD) is a common cardiac defect found in infants and children. Despite advances in diagnosis and treatment, our understanding of the causative mechanism and etiology of CHD is limited. To determine the genetic etiology of CHD, we selected 11 consecutive short tandem-repeat polymorphic (STRP) markers located in the interval of the 22q11.2 region to perform genotype analysis on a large number of CHD patients (>120) and their normal relatives (>220). The results show that as regards the distribution of allelic size and frequency of these STRP markers, there were no significant differences between the CHD patients and the normal volunteers. This indicates that there is no linkage disequilibrium with these markers in CHD. In the level of heterozygosity for each marker in nonsyndromic CHD and conotruncal heart defect (CTD), there were no significant differences between the two populations. In syndromic CHD, the level of heterozygosity for D22S1648 was significantly lower than that observed in the unaffected population (2 = 11.25; P = 0.001). This suggests that there may be a deletion at the D22S1648 locus, and the low heterozygosity of D22S1648 indicates that this marker can be used as a genetic marker for detecting microdeletions in 22q11.2. With the use of fluorescence in situ hybridization (FISH) and real-time quantitative polymerase chain reaction (PCR) performed on syndromic patients, we confirmed the molecular results.
    Relation: JOURNAL OF CLINICAL LABORATORY ANALYSIS 17 (1): 28-35
    Appears in Collections:[醫學暨健康學院] 期刊論文

    Files in This Item:

    File SizeFormat
    0KbUnknown480View/Open


    All items in ASIAIR are protected by copyright, with all rights reserved.


    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - Feedback