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歷年稿件內容

*類別：	D組-分子醫學
* 姓名：	吳秉純
投稿種類：	口頭
*中文投稿標題：	以次世代定序及限制酶片段篩檢做為多囊性腎病的基因檢測
*中文作者姓名列：	吳秉純1,楊于萱2, 李慧瑛2,高芷華3,黃政文3,朱宗信3,陳沛隆2,3,4,5,
*中文服務單位：	國立台灣大學醫學院分子醫學所1,臺大醫院基因醫學部2,臺大醫院內科部3,國立台灣大學醫學院基因體暨蛋白體研究所4,國立台灣大學醫學院臨床醫學所5,
*英文投稿標題：	Next-generation Sequencing and Restriction Endonuclease Digestion Screening as Genetic Testing of Polycystic Kidney Diseases
*英文作者姓名列：	Ping-Chun Wu1, Yu-Hsuan Yang2, Huei-Ying Li2, Tze-Wah Kao3, Jeng-Wen Huang3, Tzong-Shinn Chu3 and Pei-Lung Chen2,3,4,5
*英文服務單位：	Graduate Institute of Molecular Medicine NTU1, Department of Medical Genetics NTUH2, Department of Internal Medicine NTUH3, Institute of Genomics and Proteomics NTU4, Institute of Clinical Medicine NTU5
* 投稿摘要：	Polycystic kidney disease can be autosomal dominant (ADPKD) or autosomal recessive (ARPKD). Incidence for ADPKD is 1 in 400 to 1000, and ARPKD carrier rate is 1 in 70 worldwide. While ADPKD patients manifest symptoms in mid-adulthood, ARPKD patients develop cystic symptoms early in infancy, both resulted in extremely high percentage of end-stage renal disease that requires dialysis or transplantation. ADPKD is caused by mutations on PKD1 or PKD2, and ARPKD by PKHD1. Direct sequencing of PKDs is expensive and labor intensive with the complications of pseudogenes of PKD1. We designed a targeted panel to capture three genes and sequencing on illumine MiSeq with standard bioinformatic pipeline. All variants were checked with ADPKD Database (pkdb.mayo.edu) or ARPKD database (www.humgen.rwth-aachen.de) for significance. Novel variants were assessed with allele frequencies, SIFT and PolyPhen2 for pathogenicity. Among 55 families tested, 1 ARPKD family carries two heterozygous pathogenic variants, 25 ADPKD families with definitely pathogenic plus 15 likely pathogenic. We found a definitely pathogenic variant on PKD1 for a family suspected to be ARPKD. A founder’s effect was observed in 11 probands with the same mutation (PKD2 c.2407C>T, NM_000297), and a restriction endonuclease digestion can be implemented as screening testing, greatly reduces the cost and time for testing. In conclusion, we achieved diagnostic yield of 75% for ADPKD, providing a fast and inexpensive screening method for ADPKD hotspot, and were able to utilize genetic testing to differentiate ADPKD from ARPKD.
*關鍵字1 ：	Genetic testing
*關鍵字2 ：	Next-generation Sequencing
*關鍵字3 ：	Genetic screening
*關鍵字4 ：	Autosomal Dominant Polycystic Kidney Disease ADPKD
*關鍵字5 ：	Autosomal Recessive Polycystic Kidney Disease ARPK
* 服務機關：
* 第一作者：	吳秉純
* 身分字號：	*****05480
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審查委員意見：	建議入選為口頭
審查委員意見：	OK
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