[兰格-吉迪恩综合征和I型毛发-鼻-指（趾）综合征中8号染色体q24.1缺失区域的分子遗传学特征]
[Molecular-genetic characteristics of the deleted region of chromosome 8q24.1 in Langer-Giedion and tricho-rhino-phalangeal type I syndromes].
作者信息
Nemtsova M V, Iatsenko A N, Kuleshov N P, Novikov P V, Meerson E M, Zaletaev D V
出版信息
Genetika. 1996 Jul;32(7):978-84.
A molecular-genetic characterization of deletions in part of chromosome 8q24.1 was performed in patients with Langer-Giedion syndrome (six patients) and triho-rhino-phalangeal syndrome type I (three patients) by means of Southern blot hybridization analysis, restriction fragment length polymorphism and single-strand conformation polymorphism, analysis. Four families with multiple exostosis chondrodysplasia (MECD) also underwent the same analysis. Results of deletion mapping allowed determination of the probable region of localization of the proposed gene of MECD at D8S67 locus. By means of a polymorphic DNA probe obtained from the locus an additional hybridization signal was revealed only in patients with MECD. Other polymorphic DNA probes and microsatellite sequences confirmed the results of deletion mapping and detected haplotypes on the chromosomes with a mutation in the proposed MECD gene.
通过Southern印迹杂交分析、限制性片段长度多态性和单链构象多态性分析，对患有朗格-吉迪恩综合征（6例患者）和I型三指-鼻-指综合征（3例患者）的患者进行了8q24.1部分染色体缺失的分子遗传学特征分析。4个多发性外生骨疣软骨发育不良（MECD）家族也进行了同样的分析。缺失图谱分析结果有助于确定MECD拟议基因在D8S67位点的可能定位区域。通过从该位点获得的多态性DNA探针，仅在MECD患者中发现了额外的杂交信号。其他多态性DNA探针和微卫星序列证实了缺失图谱分析的结果，并检测到了拟议的MECD基因突变染色体上的单倍型。
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