三个芬兰色素失禁症（IP）家族，其Xq28和Xp11处的IP基因座发生了重组。
Three Finnish incontinentia pigmenti (IP) families with recombinations with the IP loci at Xq28 and Xp11.
作者信息
Hydén-Granskog C, Salonen R, von Koskull H
机构信息
Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Finland.
出版信息
Hum Genet. 1993 Mar;91(2):185-9. doi: 10.1007/BF00222723.
The locus (IP2) for the hereditary form of incontinentia pigmenti (IP) has been mapped to Xq28 by linkage analysis. We studied three IP families with polymorphic markers in the Xq28 region. In two families we observed recombination between the marker loci and IP. In the third family no crossing overs were seen and linkage to the Xq28 region could not be excluded. The other IP locus (IP1) has been mapped to Xp11.21, because of sporadic cases of IP with X-chromosomal alterations involving Xp11.21. To check whether this locus is linked to IP in these families, we used polymorphic markers in the Xp11 region. In all three families recombinations were observed, thus excluding linkage to this locus in these IP families.
通过连锁分析，遗传性色素失禁症（IP）的基因座（IP2）已被定位到Xq28。我们研究了三个在Xq28区域带有多态性标记的IP家族。在两个家族中，我们观察到标记基因座与IP之间发生了重组。在第三个家族中未观察到交叉现象，不能排除与Xq28区域的连锁关系。另一个IP基因座（IP1）已被定位到Xp11.21，这是由于散发性IP病例存在涉及Xp11.21的X染色体改变。为了检查该基因座在这些家族中是否与IP连锁，我们使用了Xp11区域的多态性标记。在所有三个家族中均观察到重组现象，因此排除了这些IP家族中该基因座与IP的连锁关系。
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