KIR haplotype content at the allele level in 77 Northern Irish families
KIR haplotype content at the allele level in 77 Northern Irish families
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DOI：
10.1007/s00251-006-0181-7
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发表时间：
2007-02-01
期刊：
影响因子：
3.2
通讯作者：
Gourraud, P. A.
中科院分区：
文献类型：
--
作者：
Middleton, D.;Meenagh, A.;Gourraud, P. A.
在确定KIR基因频率的人口研究中出现了爆炸式增长。然而，对不同人群中等位基因和单倍型频率的了解仍然有限。本研究旨在利用77个家庭父母的10个基因的等位基因信息和其他7个基因的存在/缺失来确定单倍型频率。154个不同基因型中有26个不使用等位基因信息，143个使用等位基因信息。这些基因型来自308种不同单倍型中的96种。其中，A型41个，b型55个。49个单倍型只发生一次。共有181个（58.8%）单倍型为A， 127个（41.2%）单倍型为b。3个单倍型携带2份KIR2DL4拷贝，2个单倍型被截断，KIR2DL4和KIR3DL1/S1缺失，3个单倍型KIR2DL2和KIR2DL3均阴性；其中两个单倍型携带KIR2DS2。另一个单倍型，存在于两个个体中，似乎有两个KIR2DL5A等位基因。A单倍型纯合、A和B单倍型杂合和B单倍型纯合的个体比例分别为35.1%、47.4%和17.5%。KIR3DL1、KIR2DS4和KIR2DL3基因分别存在于31个、32个和15个不同的B单倍型中，分别存在于总B单倍型中的64个、65个和40个。60个B单倍型同时具有KIR3DL1和KIR2DS4, 4个单倍型同时具有KIR2DS4和KIR2DL3。然而，在41个不同单倍型中的40个和181个A单倍型中的180个中，KIR3DL1、KIR2DS4和KIR2DL3都存在（我们没有KIR2DL1的等位基因型，因此无法确定这些单倍型上是否存在）。在等位基因水平上，KIR2DL4、KIR3DL2和KIR3DL1基因的纯合率分别为22.1%、9.7%和12.6%，而KIR2DL3和KIR2DS4基因的纯合率分别为62.6%和53%，尽管这些基因中没有一个等位基因在频率上占主导地位。
There has been an explosion in population studies determining the frequency of KIR genes. However, there is still limited knowledge of allele and haplotype frequencies in different populations. The present study aims to determine the haplotype frequencies using allele information on ten genes and presence/absence of the other seven genes in the parents of 77 families. There were 26 of 154 different genotypes without using allele information and 143 of 154 different genotypes using allele information. These genotypes came from 96 of 308 different haplotypes. Of these, 41 were A and 55 were B. Forty-nine haplotypes occurred only once. In total, 181 (58.8%) of haplotypes were A and 127 (41.2%) were B. Three different haplotypes carried two copies of KIR2DL4, two different haplotypes were truncated with both KIR2DL4 and KIR3DL1/S1 missing, and three different haplotypes were negative for both KIR2DL2 and KIR2DL3; two of these haplotypes carried KIR2DS2. A further haplotype, present in two individuals, appeared to have two alleles of KIR2DL5A present. The percentages of individuals who were homozygous for the A haplotype, heterozygous for the A and B haplotype and homozygous for the B haplotype were 35.1%, 47.4% and 17.5% respectively. The genes KIR3DL1, KIR2DS4 and KIR2DL3 were present on 31, 32 and 15 different B haplotypes, respectively, and 64, 65 and 40 of the total B haplotypes, respectively. Sixty B haplotypes had both KIR3DL1 and KIR2DS4, and four haplotypes had KIR2DS4 and KIR2DL3. However, in 40 of 41 different and 180 of 181 total A haplotypes, KIR3DL1, KIR2DS4 and KIR2DL3 were all present (we did not allele-type for KIR2DL1 and therefore could not determine presence/absence on those haplotypes). At the allele level, homozygosity was found in 22.1%, 9.7% and 12.6% for KIR2DL4, KIR3DL2 and KIR3DL1 genes, respectively, but 62.6% and 53% for KIR2DL3 and KIR2DS4 genes, respectively, despite the fact that no one allele dominated the frequency in any of these genes.