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一项关于 HLA 复合体的单倍型研究,特别涉及 HLA - DR 系列以及 Bf、C2 和乙二醛酶 I 多态性。

A haplotype study of HLA complex with special reference to the HLA-DR series and to Bf. C2 and glyoxalase I polymorphisms.

作者信息

Dausset J, Legrand L, Lepage V, Contu L, Marcelli-Barge A, Wildloecher I, Benajam A, Meo T, Degos L

出版信息

Tissue Antigens. 1978 Oct;12(4):297-307. doi: 10.1111/j.1399-0039.1978.tb01337.x.

DOI:10.1111/j.1399-0039.1978.tb01337.x
PMID:83027
Abstract

Fifty-three French families were typed for alleles at seven loci of the HLA complex (HLA-A, -B, -C, -DR, -Bf, -C2 and -GLO) and 212 haplotypes were demonstrated. Eleven recombinations were observed (two A/B, two A/C, two B/Bf, one Bf/D and four D/GLO). The linkage disequilibrium was calculated not only between two alleles (delta) but between three, four...seven alleles (D). In order to compare the intensity of D values in the various haplotypes, the influence of the differences in gene frequencies was eliminated by the introduction of the standardized Ds (Ds = D/D max). The number of haplotypes in disequilibrium is relatively limited since most of the significant Ds involved about 17 haplotypes. For some haplotypes, the disequilibrium covered the whole distance from A to GLO but the stronger disequilibrium concerns the C to Bf or C to DR segment. Three hypotheses (isolation, admixture of population and selection) concerning the formation and maintenance of the disequilibria are discussed.

摘要

对53个法国家庭的HLA复合体的7个基因座(HLA - A、- B、- C、- DR、- Bf、- C2和 - GLO)的等位基因进行了分型,并确定了212个单倍型。观察到11次重组(2次A/B、2次A/C、2次B/Bf、1次Bf/D和4次D/GLO)。不仅计算了两个等位基因之间的连锁不平衡(δ),还计算了三个、四个……七个等位基因之间的连锁不平衡(D)。为了比较各种单倍型中D值的强度,通过引入标准化的Ds(Ds = D/D max)消除了基因频率差异的影响。处于不平衡状态的单倍型数量相对有限,因为大多数显著的Ds涉及约17个单倍型。对于一些单倍型,不平衡涵盖了从A到GLO的整个距离,但更强的不平衡涉及C到Bf或C到DR区段。讨论了关于不平衡形成和维持的三个假说(隔离、种群混合和选择)。

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