Genetic analysis of RET, EDNRB, and EDN3 genes and three SNPs in MCS + 9.7 in Chinese patients with isolated Hirschsprung disease

Biochemical Genetics

Volumn 45, Issue 7-8, 2007, Pages 523-527

  Zhang, Xian Ning ^a,b   Zhou, Miao Ni ^a   Qiu, Yun Qing ^a   Ding, Shi Ping ^a   Qi, Ming ^b   Li, Ji Cheng ^a  

^a ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b ZHEJIANG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN 3; G PROTEIN COUPLED RECEPTOR; G PROTEIN COUPLED RECEPTOR ET B; PROTEIN RET; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINESE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HIRSCHSPRUNG DISEASE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; SAMESENSE MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM; SYNONYMOUS MUTATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHINA; COHORT STUDIES; ENDOTHELIN-3; FEMALE; GENE FREQUENCY; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR, ENDOTHELIN B;

EID: 34547661461     PISSN: 00062928     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10528-007-9093-y     Document Type: Article

References (6)

1. Carrasquillo MM, McCallion AS, Puffenberger EG, Kashuk CS, Nouri N, Chakravarti A (2002) Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nature Genet 32:237-244
2. Emison ES, McCallion AS, Kashuk CS, Bush RT, Grice E, Lin S, Portnoy ME, Cutler DJ, Green ED, Chakravarti A (2005) A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434:857-863
3. Garcia-Barcelo M, Sham MH, Lee WS, Lui VC, Chen BL, Wong KK, Wong JS, Tam PK (2004) Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease. Clin Chem 50:93-100
4. Gath R, Goessling A, Keller K-M, Koletzko S, Coerdt W, Muntefering H, Wirth S, Hofstra RM, Mulligan L, Eng C, von Deimling A (2001) Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease. Gut 48:671-675
5. Guan T, Li JC, Li MJ, Tou JF (2005) Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease. World J Gastroenterol 11:275-279
6. Zaahl MG, du Plessis L, Warnich L, Kotze MJ, Moore MJ (2003) Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. Mol Cell Probes 17:49-54