赫氏普隆病的一个基因映射到 10 号染色体的近端长臂上

IF 31.7 1区 生物学 Q1 GENETICS & HEREDITY
Nature genetics Pub Date : 1993-08-01 DOI:10.1038/ng0893-346
S. Lyonnet, A. Bolino, A. Pelet, L. Abel, C. Nihoul-Fékété, M. L. Briard, V. Mok-Siu, H. Kaariainen, G. Martucciello, M. Lerone, A. Puliti, Yin Luo, J. Weissenbach, M. Devoto, A. Munnich, G. Romeo
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引用次数: 191

摘要

赫氏病(HSCR)是一种常见的先天性疾病(每 5,000 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。利用一名全结肠无节病患者的 10q 染色体近端缺失(del 10q11.2-q21.2)和微卫星 DNA 标记的高密度遗传图谱,我们对 15 个非综合征长节段和短节段 HSCR 家系进行了遗传连锁分析。多点连锁分析表明,HSCR 基因座最有可能位于基因座 D10S208 和 D10S196 之间,这表明 HSCR 的显性基因映射到了 10q11.2,而其他神经嵴缺陷也映射到了这一区域。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
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.
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来源期刊
Nature genetics
Nature genetics 生物-遗传学
CiteScore
43.00
自引率
2.60%
发文量
241
审稿时长
3 months
期刊介绍: Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human and plant traits and on other model organisms. Current emphasis is on the genetic basis for common and complex diseases and on the functional mechanism, architecture and evolution of gene networks, studied by experimental perturbation. Integrative genetic topics comprise, but are not limited to: -Genes in the pathology of human disease -Molecular analysis of simple and complex genetic traits -Cancer genetics -Agricultural genomics -Developmental genetics -Regulatory variation in gene expression -Strategies and technologies for extracting function from genomic data -Pharmacological genomics -Genome evolution
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