PHYSICAL AND GENETIC-MAPPING OF THE CMT4A LOCUS AND EXCLUSION OF PMP-2 AS THE DEFECT IN CMT4A
PHYSICAL AND GENETIC-MAPPING OF THE CMT4A LOCUS AND EXCLUSION OF PMP-2 AS THE DEFECT IN CMT4A
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DOI：
10.1006/geno.1995.1143
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发表时间：
1995-07-20
期刊：
影响因子：
4.4
通讯作者：
VANCE, JM
中科院分区：
文献类型：
--
作者：
BENOTHMANE, K;LOEB, D;VANCE, JM
我们之前已经将常染色体隐性4型（CMT4A）的一种形式定位在染色体8q13-q21的5cm区域。我们现在报告一个横跨该地区的7 mb的YAC群的形成。该序列被用于在该区域绘制另外9个微卫星和6个STSs，随后的单倍型分析将CMT4A侧翼间隔缩小到小于1 cM。此外，利用SSCP和我们的物理图谱，我们已经证明了FISH在该区域定位的髓磷脂蛋白PMP-S不是CMT4A的缺陷(C)。1995学术出版社。
We have previously localized one form of the autosomal recessive Charcot-Marie-Tooth disease type 4 (CMT4A) to a 5-cM region of chromosome 8q13-q21. We now report the formation of a 7-Mb YAC contig spanning the region. This contig was used to map nine additional microsatellites and six STSs to this region, and subsequent haplotype analysis has narrowed the CMT4A flanking interval to less than 1 cM. In addition, using SSCP and our physical map, we have demonstrated that the myelin protein PMP-S, mapped by FISH to this region, is not the defect in CMT4A (C). 1995 Academic Press.