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Hirschsprung病におけるRET遺伝子と、その関連遺伝子GDNFおよびNTN遺伝子の変異解析：阪井哲男,長島　鎮,柳田　修,黒木義浩,脇坂　晟（杏林大・医・生化）

Mutation analysis of the receptor tyrosine kinase (RET) related genes, the glial cell line-derived neurotrophic factor (GDNF) gene and the neurturin (NTN) gene in Hirschsprung disease: Tetsuo SAKAI, Yasushi NAGASHIMA, Osamu YANAGIDA, Yoshihiro KUROKI and Akira WAKIZAKA. (Dept. of Biochem. & Molec. Biol., Kyorin Univ. Sch. Med.)

The receptor tyrosine kinase (RET) proto-oncogene alteration have been demonstrated as disease-causative mutations in five different disease entities; Hirschsprung disease (HSCR); papillary thyroid carcinoma (PTC); and three types of inherited cancer syndromes: multiple endocrine neoplasia (MEN) 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC). GDNF (glial cell line-derived neurotrophic factor) and NTN (neurturin) have been discovered as the ligands for RET. We examined 21 HSCR patients for their DNA sequences in these three genes by the direct sequencing techniques, and found five nucleotidic changes in the RET proto-oncogene. However, one mutation was detected in non-coding region in the exon 1 of the GDNF gene ( -25 T to C ) and no nucleotidic transition was observed in NTN gene so far. This results suggest that mutations in GDNF or NTN itself are neither necessary nor sufficient to cause HSCR, but the GDNF and NTN gene might be involved in the modulation of the HSCR phenotype via its interaction with other susceptible loci, such as RET.