LETTER TO JMG

Ancestral RET haplotype associated with Hirschsprung’s disease shows linkage disequilibrium breakpoint at –1249

R M Fernandez¹, G Boru², A Peciña¹, K Jones², M López-Alonso³, G Antiñolo¹, S Borrego¹, C Eng²

¹ Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocío, Seville, Spain
² Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, USA
³ Servicio de Cirugía Infantil, Hospitales Universitarios Virgen del Rocío, Seville, Spain

Correspondence to:
Correspondence to:
Dr Salud Borrego
Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocío, Avda. Manuel Siurot s/n, 41013, Seville, Spain; salud.borrego.sspa@juntadeandalucia.es

Revised version received 2 August 2004

Accepted 11 August 2004

Abbreviations: FRET, fluorescence resonance energy transfer; HSCR, Hirschsprung’s disease; LD, linkage disequilibrium; SNP, single nucleotide polymorphism

Keywords: RET proto-oncogene; HSCR; haplotype; linkage

The first 150 words of the full text of this article appear below.

The RET proto-oncogene, located at 10q11.2, encodes receptor tyrosine kinase expressed during neural crest development and is involved in different human neurocristopathies such as the multiple endocrine neoplasia type 2 (MEN 2) syndromes and Hirschsprung’s disease (HSCR).¹ HSCR (OMIM 142623), or aganglionic megacolon, is a common developmental disorder characterised by the absence of enteric neurones in variable lengths of the distal gastrointestinal tract, resulting in functional intestinal obstruction. Although RET is considered to be the major gene involved in HSCR, only a subset of HSCR patients can be attributable to traditional germline RET mutations (50% of familial HSCR and 10–15% of sporadic cases in selected series,^2,3 or 30% of familial and 3% of sporadic cases in a population based study⁴). In an even smaller subset of HSCR patients (5–10%), germline variants are present in other genes, generally related to the developmental programme of neural crest cells, such as . . . [Full text of this article]

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