Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients

Zhen Zhang, Qian Jiang, Qi Li, Wei Cheng, Guo-Liang Qiao, Ping Xiao, Liang Gan, Lin Su, Chunyue Miao, Long Li

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Genetic mosaicism has been reported for both coding and non-coding sequences in the RET gene in Hirschsprung disease (HSCR) patients. This study aimed to investigate somatic mutation rate in Chinese population by comparing both homozygous genotype percentage and risk allele frequency of 3 RET single nucleotide polymorphisms (SNPs) among blood and colon samples.
Original languageEnglish
Pages (from-to)5528 - 5534
Number of pages7
JournalInternational Journal of Clinical and Experimental Pathology
Volume8
Issue number5
Publication statusPublished - 2015

Cite this

Zhang, Zhen ; Jiang, Qian ; Li, Qi ; Cheng, Wei ; Qiao, Guo-Liang ; Xiao, Ping ; Gan, Liang ; Su, Lin ; Miao, Chunyue ; Li, Long. / Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients. In: International Journal of Clinical and Experimental Pathology. 2015 ; Vol. 8, No. 5. pp. 5528 - 5534.
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title = "Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients",
abstract = "Genetic mosaicism has been reported for both coding and non-coding sequences in the RET gene in Hirschsprung disease (HSCR) patients. This study aimed to investigate somatic mutation rate in Chinese population by comparing both homozygous genotype percentage and risk allele frequency of 3 RET single nucleotide polymorphisms (SNPs) among blood and colon samples.",
author = "Zhen Zhang and Qian Jiang and Qi Li and Wei Cheng and Guo-Liang Qiao and Ping Xiao and Liang Gan and Lin Su and Chunyue Miao and Long Li",
year = "2015",
language = "English",
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journal = "International Journal of Clinical and Experimental Pathology",
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Zhang, Z, Jiang, Q, Li, Q, Cheng, W, Qiao, G-L, Xiao, P, Gan, L, Su, L, Miao, C & Li, L 2015, 'Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients', International Journal of Clinical and Experimental Pathology, vol. 8, no. 5, pp. 5528 - 5534.

Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients. / Zhang, Zhen; Jiang, Qian; Li, Qi; Cheng, Wei; Qiao, Guo-Liang; Xiao, Ping; Gan, Liang; Su, Lin; Miao, Chunyue; Li, Long.

In: International Journal of Clinical and Experimental Pathology, Vol. 8, No. 5, 2015, p. 5528 - 5534.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients

AU - Zhang, Zhen

AU - Jiang, Qian

AU - Li, Qi

AU - Cheng, Wei

AU - Qiao, Guo-Liang

AU - Xiao, Ping

AU - Gan, Liang

AU - Su, Lin

AU - Miao, Chunyue

AU - Li, Long

PY - 2015

Y1 - 2015

N2 - Genetic mosaicism has been reported for both coding and non-coding sequences in the RET gene in Hirschsprung disease (HSCR) patients. This study aimed to investigate somatic mutation rate in Chinese population by comparing both homozygous genotype percentage and risk allele frequency of 3 RET single nucleotide polymorphisms (SNPs) among blood and colon samples.

AB - Genetic mosaicism has been reported for both coding and non-coding sequences in the RET gene in Hirschsprung disease (HSCR) patients. This study aimed to investigate somatic mutation rate in Chinese population by comparing both homozygous genotype percentage and risk allele frequency of 3 RET single nucleotide polymorphisms (SNPs) among blood and colon samples.

UR - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503131/

M3 - Article

VL - 8

SP - 5528

EP - 5534

JO - International Journal of Clinical and Experimental Pathology

JF - International Journal of Clinical and Experimental Pathology

SN - 1936-2625

IS - 5

ER -