Waardenburg-先天性巨结肠病中RET和Pax 3基因座的排除
Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
作者信息
Attié T, Till M, Pelet A, Edery P, Bonnet J P, Munnich A, Lyonnet S
机构信息
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Paris, France.
出版信息
J Med Genet. 1995 Apr;32(4):312-3. doi: 10.1136/jmg.32.4.312.
Abstract
The RET and the Pax 3 genes have recently been shown to account for autosomal dominant Hirschsprung's disease (HSCR) and Waardenburg syndrome type 1 (WS1) respectively, which led us to consider them as candidate genes in the WS/HSCR association. Linkage analyses performed in a consanguineous WS/HSCR family support the view that neither the RET locus nor the Pax 3 locus are involved in the disease phenotype. Hence, at least one further locus altering neural crest cell development is responsible for the pleiotropic features observed in the WS/HSCR association.
摘要
RET基因和Pax 3基因最近分别被证明与常染色体显性遗传的先天性巨结肠症（HSCR）和1型瓦登伯革氏综合征（WS1）有关，这使我们将它们视为WS/HSCR关联中的候选基因。在一个近亲结婚的WS/HSCR家族中进行的连锁分析支持这样一种观点，即RET基因座和Pax 3基因座均不参与该疾病的表型。因此，至少还有一个改变神经嵴细胞发育的基因座导致了WS/HSCR关联中观察到的多效性特征。
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Nat Genet. 1993 Aug;4(4):351-6. doi: 10.1038/ng0893-351.
2
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.先天性巨结肠病的一个基因定位于10号染色体长臂近端。
Nat Genet. 1993 Aug;4(4):346-50. doi: 10.1038/ng0893-346.
3
Mutations of the RET proto-oncogene in Hirschsprung's disease.先天性巨结肠症中RET原癌基因的突变
Nature. 1994 Jan 27;367(6461):378-80. doi: 10.1038/367378a0.
4
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease.影响先天性巨结肠症中RET原癌基因酪氨酸激酶结构域的点突变。
Nature. 1994 Jan 27;367(6461):377-8. doi: 10.1038/367377a0.
5
White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: possible variant of Waardenburg syndrome.白发额发、虹膜色素沉着紊乱与长段先天性巨结肠病：可能为瓦登伯革综合征的变异型
J Pediatr. 1981 Sep;99(3):432-5. doi: 10.1016/s0022-3476(81)80339-3.
6
Waardenburg and Hirschsprung syndromes.瓦登伯格综合征和先天性巨结肠症。
J Pediatr. 1983 May;102(5):802. doi: 10.1016/s0022-3476(83)80267-4.
7
Association of megacolon with two recessive spotting genes in the mouse.小鼠巨结肠与两个隐性斑点基因的关联。
J Hered. 1966 Jan-Feb;57(1):29-31. doi: 10.1093/oxfordjournals.jhered.a107457.
8
Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect.瓦登伯革氏综合征合并先天性巨结肠：一种神经嵴缺陷。
Pediatr Dermatol. 1986 Feb;3(2):119-24. doi: 10.1111/j.1525-1470.1986.tb00501.x.
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Am J Med Genet. 1990 Jan;35(1):100-4. doi: 10.1002/ajmg.1320350119.
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