Mutation of RET proto-oncogene in Hirschsprung's disease and intestinal neuronal dysplasia

World Journal of Gastroenterology : WJG
Jin-Fa TouZhi-Gang Feng

Abstract

To investigate the genetic relationship between Hirschsprung's disease (HD) and intestinal neuronal dysplasia (IND) in Chinese population. Peripheral blood samples were obtained from 30 HD patients, 20 IND patients, 18 HD/IND combined patients and 20 normal individuals as control. Genomic DNA was extracted according to standard procedure. Exons 11,13,15,17 of RET proto-oncogene were amplified by polymerase chain reaction (PCR). The mutations of RET proto-oncogene were analyzed by single strand conformational polymorphism (SSCP) and sequencing of the positive amplified products was performed. Eight germline sequence variants were detected. In HD patients, 2 missense mutations in exon 11 at nucleotide 15165 G-->A (G667S), 2 frameshift mutations in exon 13 at nucleotide 18974 (18974insG), 1 missense mutation in exon 13 at nucleotide 18919 A-->G (K756E) and 1 silent mutation in exon 15 at nucleotide 20692 G-->A(Q916Q) were detected. In HD/IND combined patients, 1 missense mutation in exon 11 at nucleotide 15165 G-->A and 1 silent mutation in exon 13 at nucleotide 18888 T-->G (L745L) were detected. No mutation was found in IND patients and controls. Mutation of RET proto-oncogene is involved in the etiopathogenesis of HD. The freque...Continue Reading

References

Apr 1, 1991·European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie·S W MooreS Cywes
Apr 1, 1987·Molecular and Cellular Biology·M Takahashi, G M Cooper
Oct 18, 1995·Journal of the National Cancer Institute·P J Goodfellow, S A Wells
Oct 1, 1995·Journal of Internal Medicine·H Donis-Keller
Oct 1, 1994·European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie·A M HolschneiderB M Ure
Oct 1, 1994·European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie·W Meier-RugeC P Schmidt
May 1, 1996·Journal of Pediatric Gastroenterology and Nutrition·H KobayashiP Puri
Apr 1, 1996·Journal of Pediatric Surgery·H KobayashiP Puri
Feb 1, 1997·Journal of Pediatric Surgery·P Puri
Mar 1, 1997·Journal of Pediatric Surgery·T ShimotakeJ Inazawa
Feb 24, 1998·Journal of Pediatric Surgery·G MartuccielloV Jasonni
Sep 4, 1998·Clinical Genetics·P J SvenssonA Nordenskjöld
Jun 8, 1999·Journal of Pediatric Surgery·J M WheatleyM R Hurley
Jan 26, 2000·Journal of Pediatric Surgery·M SancandiP K Tam
Nov 15, 2000·The American Journal of Surgical Pathology·Y M JengH C Hsu
Apr 24, 2001·Pediatric Surgery International·A NogueiraJ L Carvalho
Nov 24, 2001·European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie·T SakaiY Nirasawa

❮ Previous
Next ❯

Citations

Mar 26, 2014·Virchows Archiv : an International Journal of Pathology·Saumyaranjan MallickDatta Gupta Siddhartha
Jul 31, 2008·Pediatric Surgery International·Maria Cecília M CoelhoMaria Merces Santos
Sep 8, 2016·World Journal of Gastrointestinal Pharmacology and Therapeutics·Pedro Luiz Toledo de Arruda LourençãoMaria Aparecida Marchesan Rodrigues

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.