Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease
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- 作者：Burhan M. Edreesa ; g ; 1 ; Mohammad Athara ; b ; 1 ; athar80@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Faisal A. Al-Allafa ; b ; c ; 1 ; faallaf@uqu.edu.sa" class="auth_mail" title="E-mail the corresponding author ; Mohiuddin M. Tahera ; b ; Wajahatullah Khand ; Abdellatif Bouazzaouia ; b ; Naffaa Al-Harbie ; Ramzia Safarf ; Howaida Al-Edressif ; Khawala Alansaryg ; Abulkareem Anazig ; Naji Altayebg ; Muawia A. Ahmedh ; Zainularifeen Abduljaleela ; b ; 1 ; zainulbio@gmail.com" class="auth_mail" title="E-mail the corresponding author ; zaabduljaleel@uqu.edu.sa" class="auth_mail" title="E-mail the corresponding author
- 关键词：ARPKD ; autosomal recessive polycystic kidney disease ; ADPKD ; Autosomal Dominant Polycystic Kidney Disease ; nsSNPs ; non-synonymous SNPs ; SIFT ; Sorting Intolerant From Tolerant ; PolyPhen2 ; Polymorphism Phenotyping ; NGS ; Next generation sequencing ; ISP ; Ion Sphere Particles ; BAM ; binary alignment mapping ; hg19 ; reference genome ; BWA ; Burrows-Wheeler Aligner ; SAM ; sequence alignment mapping ; PCR ; polymerase chain reaction ; SOAP ; Short Oligonucleotide Analysis Package ; GO ; Gene-Ontology
- 刊名：Gene
- 出版年：2016
- 出版时间：10 October 2016
- 年：2016
- 卷：591
- 期：1
- 页码：214-226
- 全文大小：2218 K
文摘
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We performed the targeted customized sequencing of genes implicated in ARPKD.
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Identify candidate novel and common variants using the next-generation sequencing.
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The results detected highly pathogenic variants during the validation process.
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The variant found in PKHD1 gene was a novel homozygous derived from a male proband.
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This strategy are lower cost and less time consuming for simultaneous PKHD1 sequence.