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Ret single nucleotide polymorphism in indonesians with sporadic hirschsprung's disease

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The tyrosine kinase receptor RET, which is the protein product of the RET gene, is involved in the development of the mammalian nervous system that causes Hirschsprung's disease (HSCR). RETs are cell surface molecules that are expressed in cells derived from the neural crest. The purpose of this study was to investigate the polymorphism of the RET gene in HSCR in the Yogyakarta population. Genomic DNA was extracted from surgically removed bowel tissues of 54 unrelated HSCR patients. Exon 2 of the RET gene was amplified by polymerase chain reaction (PCR) and analyzed by restriction fragment length polymorphism (RFLP). Molecular results were compared with clinical performance of Hirschsprung patients. RET polymorphism was detected in exon 2 in all of the 54 Indonesian HSCR patients. The allelic distribution of the c 135G-7 A polymorphism in the RET exon 2 indicated that the A allele was more frequent in patients than in control individuals (chi¬square test, p= 0.00 I). Thus the RET variant allele A is over-represented in patients affected with the HSCR phenotype. Polymorphism of ex on 2 of the RET gene was found in sporadic Hirschsprung's disease in the Yogyakarta population, which suggests that the RET gene plays important roles in the pathogenesis of HSCR.

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Ketersediaan

Informasi Detail

Judul Seri

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No. Panggil

Universa Medicina, 29(2)201): 71-77

Penerbit

Jakarta : Trisakti University., 2010

Deskripsi Fisik

7p.

Bahasa

ISBN/ISSN

1907-3062

Klasifikasi

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Tipe Isi

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Tipe Media

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Tipe Pembawa

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Edisi

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Subjek

POLYMORPHINE, GENETIC
HIRSCHSPIRUNG DISEASE

Info Detail Spesifik

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Pernyataan Tanggungjawab

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Versi lain/terkait

Lampiran Berkas

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