Association between RET proto-oncogene polymorphisms and Hirschsprung disease in Chinese Han population of Hubei district / 中华胃肠外科杂志
Chinese Journal of Gastrointestinal Surgery
;
(12): 152-156, 2006.
Article
in Chinese
| WPRIM
| ID: wpr-283362
ABSTRACT
<p><b>OBJECTIVE</b>To establish the genetic background of exon2, exon13, exon11 and exon15 polymorphisms of RET proto-oncogene and study the possible involvement of RET proto-oncogene in the etiology of Hirschsprung disease (HD) in Chinese Han population surrounding Province HuBei.</p><p><b>METHODS</b>The genotype and allele frequencies of RET proto-oncogene polymorphisms were identified by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLPS) in 94 HD patients and 122 control subjects.</p><p><b>RESULTS</b>The genotype and allele frequencies of exon2 were AA 0.17, AG 0.72, GG 0.11, A 0.53, G 0.47 in control, and AA 0.61, AG 0.35, GG 0.04, A 0.78, G 0.22 in HD, and those of exon13 were GG 0.30, GT 0.52, TT 0.18, G 0.56, T 0.44 in control, and GG 0.49, GT 0.36, TT 0.15, G 0.67, T 0.33 in HD. There were significant differences in the two polymorphisms above between HD and control. The genotype and allele frequencies of exon11 were AA 0.05, AG 0.16, GG 0.79, A 0.13, G 0.87 in control and AA 0.02, AG 0.14, GG 0.84, A 0.09, G 0.91 in HD, the differences were not found between these two groups about this site. Exon15 were all of CC genotype in spite of control or HD.</p><p><b>CONCLUSIONS</b>These data provide evidences for the contributions of exon2 and exon13 polymorphisms of RET proto-oncogene to susceptibility to HD in Chinese Han population surrounding province.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Genetic
/
China
/
Exons
/
Asian People
/
Alleles
/
Proto-Oncogene Proteins c-ret
/
Ethnology
/
Gene Frequency
/
Genetics
/
Genotype
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Gastrointestinal Surgery
Year:
2006
Type:
Article
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