77个北爱尔兰家庭中等位基因水平的杀伤细胞免疫球蛋白样受体单倍型含量。
KIR haplotype content at the allele level in 77 Northern Irish families.
作者信息
Middleton D, Meenagh A, Gourraud P A
机构信息
Northern Ireland Regional Histocompatibility and Immunogenetics Laboratory, Belfast City Hospital, Belfast, BT9 7TS, Northern Ireland, UK.
出版信息
Immunogenetics. 2007 Feb;59(2):145-58. doi: 10.1007/s00251-006-0181-7. Epub 2007 Jan 3.
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.
在确定KIR基因频率的群体研究方面出现了激增。然而，对于不同群体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个家庭父母中10个基因的等位基因信息以及其他7个基因的有无来确定单倍型频率。不使用等位基因信息时，154种不同基因型中有26种，使用等位基因信息时，154种不同基因型中有143种。这些基因型来自308种不同单倍型中的96种。其中，41种是A单倍型，55种是B单倍型。49种单倍型仅出现一次。总体而言，181种（58.8%）单倍型是A单倍型，127种（41.2%）是B单倍型。三种不同的单倍型携带两份KIR2DL4拷贝，两种不同的单倍型缺失KIR2DL4和KIR3DL1/S1而被截断，三种不同的单倍型KIR2DL2和KIR2DL3均为阴性；其中两种单倍型携带KIR2DS2。另一种单倍型存在于两个人中，似乎有两个KIR2DL5A等位基因。A单倍型纯合子、A和B单倍型杂合子以及B单倍型纯合子个体的百分比分别为35.1%、47.4%和17.5%。KIR3DL1、KIR2DS4和KIR2DL3基因分别存在于31种、32种和15种不同的B单倍型上，分别占总B单倍型的64%、65%和40%。60种B单倍型同时具有KIR3DL1和KIR2DS4，4种单倍型具有KIR2DS4和KIR2DL3。然而，在41种不同的A单倍型中的40种以及181种总A单倍型中的180种中（我们未对KIR2DL1进行等位基因分型，因此无法确定这些单倍型上该基因的有无），KIR3DL1、KIR2DS4和KIR2DL3均存在。在等位基因水平上，KIR2DL4、KIR3DL2和KIR3DL基因的纯合率分别为22.1%、9.7%和12.6%，但KIR2DL3和KIR2DS4基因的纯合率分别为62.6%和53%，尽管在这些基因中没有一个等位基因在频率上占主导地位。
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