Lyonnet S, Bolino A, Pelet A, Abel L, Nihoul-Fékété C, Briard M L, Mok-Siu V, Kaariainen H, Martucciello G, Lerone M, Puliti A, Luo Y, Weissenbach J, Devoto M, Munnich A, Romeo G
Départment de Pédiatrie, l'Enfant INSERM U-12 Hôpital des Enfants-Malades, Paris, France.
Nat Genet. 1993 Aug;4(4):346-50. doi: 10.1038/ng0893-346.
Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic aganglionosis, and of a high-density genetic map of microsatellite DNA markers, we performed genetic linkage analysis in 15 non-syndromic long-segment and short-segment HSCR families. Multipoint linkage analysis indicated that the most likely location for a HSCR locus is between loci D10S208 and D10S196, suggesting that a dominant gene for HSCR maps to 10q11.2, a region to which other neural crest defects have been mapped.
先天性巨结肠症（HSCR）是一种常见的先天性疾病（每5000名新生儿中就有1例），病因不明，其特征是后肠副交感神经固有神经节细胞缺失。利用一名全结肠无神经节症患者的10号染色体近端缺失（del 10q11.2-q21.2）以及微卫星DNA标记的高密度遗传图谱，我们对15个非综合征性长节段和短节段HSCR家族进行了遗传连锁分析。多点连锁分析表明，HSCR基因座最可能的位置在基因座D10S208和D10S196之间，这表明HSCR的一个显性基因定位于10q11.2，该区域也与其他神经嵴缺陷相关。
