Molecular analysis of syndromic congenital heart disease using short tandem repeat markers and semiquantitative polymerase chain reaction method

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Title:	Molecular analysis of syndromic congenital heart disease using short tandem repeat markers and semiquantitative polymerase chain reaction method
Authors:	施怡如(Shi YR);謝凱生(Hsieh KS);鄔哲源;李正淳(Cheng-Chun Lee);蔡長海(Chang-Hai Tsai);蔡輔仁(Fuu-Jen Tsai)*
Contributors:	中醫學院學士後中醫學系學士班中醫基礎學科;中國附醫兒童醫學中心小兒遺傳科
Keywords:	chromosome 22q11.2 deletion;DiGeorge syndrome;semiquantitative polymerase chain reaction method;velo-cardiofacial syndrome
Date:	2002-01
Issue Date:	2009-08-24 15:02:34 (UTC+8)
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 fluorescent 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:	[Graduate Institute of Acupuncture Science] Journal articles

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