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    ASIA unversity > 醫學暨健康學院 > 期刊論文 >  Item 310904400/6753


    Please use this identifier to cite or link to this item: http://asiair.asia.edu.tw/ir/handle/310904400/6753


    Title: Molecular analysis of syndromic congenital heart disease using short tandem repeat markers and semiquantitative polymerase chain reaction method
    Authors: Shi YR;Hsieh KS;Wu,Jer-Yuarn;Cheng-Chun Lee;Chang-Hai Tsai;Fuu-Jen Tsai
    Date: 2002-01
    Issue Date: 2009-12-23 14:22:03 (UTC+8)
    Publisher: Asia University
    Abstract: Background : Velo-cardiofacial syndrome (VCFS) and DiGeorge syndrome (DGS) are developmental disorders characterized by craniofacial anomalies and conotruncal heart defects. Many of them have hemizygous deletions within chromosome 22q11.2, suggesting that haploinsufficiency in this region are responsible for their etiologies.
    Methods : To effectively understand the molecular basis for the chromosomal deletions, a semiquantitative fluores?cent polymerase chain reaction (PCR) method using 11 highly polymorphic markers located in 22q11.2 to perform genotyping analysis on 10 probands (five VCFS and five DGS) and their unaffected relatives were designed.
    Results : Two VCFS and four DGS patients have a 3-Mb deletion; the other DGS patient has a 1.5-Mb deletion and a cross-over occurs in the same interval at the other allele.
    Conclusion : This results supports that the specific regions in 22q11.2 are susceptible to rearrangement and the deletions might be the genetic etiology of these syndromes. Most important of all, the new method, semiquantitative fluorescent PCR, is an effective method for detecting chromosomal microdeletions and has the following features: (i) the cost is inexpensive; (ii) the testing time is short; and (iii) the result is accurate.
    Relation: PEDIATRICS INTERNATIONAL 44 (3): 264-268
    Appears in Collections:[醫學暨健康學院] 期刊論文

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