G6PD HAPLOTYPES SPANNING XQ28 FROM F8C TO RED-GREEN COLOR-VISION
G6PD HAPLOTYPES SPANNING XQ28 FROM F8C TO RED-GREEN COLOR-VISION
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DOI：
10.1006/geno.1993.1276
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发表时间：
1993-07-01
期刊：
影响因子：
4.4
通讯作者：
MARTINI, G
中科院分区：
文献类型：
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作者：
FILOSA, S;CALABRO, V;MARTINI, G
Xq28带内人类X染色体最高端粒区由约3Mb的富含基因的区域组成，该区域含有凝血因子VIIIc、葡萄糖-6-磷酸脱氢酶(G6PD)和红/绿视觉等基因。在意大利南部科森扎省的正常人样本中，我们研究了该地区的五个多态位点。这些距离约为350kb的位点处于强烈的连锁不平衡状态。在32个可能的单倍型中只发现了10个，其中4个单倍型占分析的所有X染色体的80%。此外，我们还发现，所有G6PD地中海突变的G6PD缺陷者只属于两种单倍型。其中之一(地中海1号)仅在阿彭宁山脉以西的调查区域的一小块区域内被发现。最值得注意的是，所有Med 1 G6PD缺陷个体也都有红/绿色盲。更常见的单倍型(Med 2)在卡拉布里亚和撒丁岛是相同的，在那里它约占G6PD地中海突变的90%，尽管撒丁岛和意大利南部人口之间的基因流动一定是有限的。这些数据不能使我们确定这两种类型的地中海G6PD是通过两个独立的相同突变事件发生，还是通过单个突变事件随后重组而发生。然而，数据表明，在X染色体的延伸区域内相对较少的重组，他们表明，与其他研究的多态相比，G6PD地中海突变是最近的。
The most telomeric region of the human X chomosome within band Xq28 consists of a gene-rich region of about 3 Mb which contains the genes for coagulation factor VIIIc, glucose-6-phosphate dehydrogenase (G6PD), and red/green color vision. We have studied five polymorphic sites from this region, in a sample of normal people from the Cosenza province of Southern Italy. These sites, which span a distance of some 350 kb, are in strong linkage disequilibrium. Of the 32 possible haplotypes only 10 were found, and 4 of these account for 80% of all X chromosomes analyzed. In addition, we found that all G6PD-deficient people with the G6PD Mediterranean mutation belong to only two haplotypes. One of these (Med 1) is found only within a small subregion of the area investigated, west of the Appennine mountain range. Most remarkably, all Med 1 G6PD-deficient individuals also had red/green color blindness. The more frequent haplotype (Med 2) is the same in Calabria and in Sardinia, where it accounts for about 90% of the G6PD Mediterranean mutations, despite the fact that gene flow between the populations of Sardinia and Southern Italy must have been limited. These data do not enable us to determine whether the two types of G6PD Mediterranean have arisen through two separate identical mutational events or through a single mutational event followed by recombination. However, the data indicate relatively little recombination over an extended region of the X chromosome and they suggest that the G6PD Mediterranean mutation is recent by comparison to the other polymorphisms investigated.