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

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

Paediatrics Monash Health

Research output: Contribution to journal › Article › Research › peer-review

9 Citations (Scopus)

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 language	English
Pages (from-to)	5528 - 5534
Number of pages	7
Journal	International Journal of Clinical and Experimental Pathology
Volume	8
Issue number	5
Publication status	Published - 2015

Cite this

@article{9c6bc860e8c44d29bc3bc668909473df,

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",

volume = "8",

pages = "5528 -- 5534",

journal = "International Journal of Clinical and Experimental Pathology",

issn = "1936-2625",

publisher = "e-Century Publishing",

number = "5",

}

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

SN - 1936-2625

VL - 8

SP - 5528

EP - 5534

JO - International Journal of Clinical and Experimental Pathology

JF - International Journal of Clinical and Experimental Pathology

IS - 5

ER -

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

Abstract

Other files and links

Cite this